SPG20: Difference between revisions

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikidata
View/Edit Human

VisualWikitext

Latest revision as of 11:33, 9 January 2019

Spartin is a protein that in humans is encoded by the SPG20 gene.^[1]^[2]^[3]

This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).^[3] Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs).^[4] HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs.^[4]

Background

The original description of this gene mutation and associated symptoms were described in 1967.^[5] This mutation is commonly found in high frequency with the Amish population.^[2] Newer studies have found that the mutation is not isolated to the Amish population, but also resides in the Omani population.^[5]

Presentation

This syndrome is not only characterized by spasticity and weakness in the lower limbs, but also with dysarthria, mental retardation or mild developmental delay, and muscle wasting or muscle atrophy.^[4]

Physical

Individuals appear to have difficulty walking, and report a clumsy, spastic gait which worsens over time.^[5] Some additional common physical features include overgrowth of the jaw bone, hammer toes, hand and feet abnormalities, and pes cavus.^[5]

Cognitive

Cognitive challenges, including developmental delay and difficulty with performance in school, may affect individuals with this syndrome.^[5]

Neurologic

Neurologic examination of individuals with this mutation may show dysmetria in the upper extremities, hyperreflexia, distal amyotrophy and ankle clonus, in addition to spasticity, weakness and dysarthria.^[5]

Diagnostic Imaging

The cerebellar vermis may present with mild atrophy and a loss of white matter volume.^[5]

Through Lifespan

Facial dysmorphism and subtle skeletal features are common in younger children.^[5] The condition progressively worsens, as spasticity and distal amyotrophy symptoms are revealed more in teenage years.^[5] SPG20 expression in the adult is relatively modest, however it is widespread in the nervous system.^[5] Longitudinal comparison of magnetic resonance imaging concluded that there was a progression of the syndrome; thus, the condition appears to worsen over time.^[5]

References

↑ Cross HE, McKusick VA (Jun 1967). "The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting". Arch Neurol. 16 (5): 473–85. doi:10.1001/archneur.1967.00470230025003. PMID 6022528.
↑ ^2.0 ^2.1 Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH (Jul 2002). "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia". Nat Genet. 31 (4): 347–8. doi:10.1038/ng937. PMID 12134148.
↑ ^3.0 ^3.1 "Entrez Gene: SPG20 spastic paraplegia 20, spartin (Troyer syndrome)".
↑ ^4.0 ^4.1 ^4.2 Bakowska, J.C.; Jenkins, R.; Pendleton, J.; Blackstone, C. (2005). "The Troyer syndrome (SPG20) protein interacts with Eps15". Biochemical and Biophysical Research Communications. 334 (4): 1042–1048. doi:10.1016/j.bbrc.2005.06.201. PMID 16036216.
↑ ^5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 Manzini, M. C.; Rajab, A.; Maynard, T. M.; Mochida, G. H.; Tan, W.; Nasir, R.; et al. (2010). "Developmental and degenerative features in a complicated spastic paraplegic". Annals of Neurology. 67 (4): 516–525. doi:10.1002/ana.21923. PMC 3027847. PMID 20437587.

External links

GeneReviews/NCBI/NIH/UW entry on Troyer Syndrome **

Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
Auer-Grumbach M, Fazekas F, Radner H, et al. (1999). "Troyer syndrome: a combination of central brain abnormality and motor neuron disease?". J. Neurol. 246 (7): 556–61. doi:10.1007/s004150050403. PMID 10463356.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ciccarelli FD, Proukakis C, Patel H, et al. (2003). "The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia". Genomics. 81 (4): 437–41. doi:10.1016/S0888-7543(03)00011-9. PMID 12676568.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
Liu M, Liu Y, Cheng J, et al. (2004). "Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study". World J. Gastroenterol. 10 (12): 1746–9. PMC 4572261. PMID 15188498.
Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Bakowska JC, Jenkins R, Pendleton J, Blackstone C (2005). "The Troyer syndrome (SPG20) protein spartin interacts with Eps15". Biochem. Biophys. Res. Commun. 334 (4): 1042–8. doi:10.1016/j.bbrc.2005.06.201. PMID 16036216.
Lu J, Rashid F, Byrne PC (2006). "The hereditary spastic paraplegia protein spartin localises to mitochondria". J. Neurochem. 98 (6): 1908–19. doi:10.1111/j.1471-4159.2006.04008.x. PMID 16945107.
Bakowska JC, Jupille H, Fatheddin P, et al. (2007). "Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking". Mol. Biol. Cell. 18 (5): 1683–92. doi:10.1091/mbc.E06-09-0833. PMC 1855030. PMID 17332501.
Bakowska, J.C.; Jenkins, R.; Pendleton, J.; Blackstone, C. (2005). "The Troyer syndrome (SPG20) protein interacts with Eps15". Biochemical and Biophysical Research Communications. 334 (4): 1042–1048. doi:10.1016/j.bbrc.2005.06.201. PMID 16036216.
Manzini, M. C.; Rajab, A.; Maynard, T. M.; Mochida, G. H.; Tan, W.; Nasir, R.; et al. (2010). "Developmental and degenerative features in a complicated spastic paraplegic". Annals of Neurology. 67 (4): 516–525. doi:10.1002/ana.21923. PMC 3027847. PMID 20437587.
Ciccarelli, F. D.; Patton, M. A.; McKusick, V. A.; Crosby, A. H. (2002). "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia". Nature Genetics. 31 (4): 347–348. doi:10.1038/ng937. PMID 12134148.

This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by expanding it.

[pmid6022528-1] Cross HE, McKusick VA (Jun 1967). "The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting". Arch Neurol. 16 (5): 473–85. doi:10.1001/archneur.1967.00470230025003. PMID 6022528.

[pmid12134148-2] 2.0 ^2.1 Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH (Jul 2002). "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia". Nat Genet. 31 (4): 347–8. doi:10.1038/ng937. PMID 12134148.

[entrez-3] 3.0 ^3.1 "Entrez Gene: SPG20 spastic paraplegia 20, spartin (Troyer syndrome)".

[troyer1-4] 4.0 ^4.1 ^4.2 Bakowska, J.C.; Jenkins, R.; Pendleton, J.; Blackstone, C. (2005). "The Troyer syndrome (SPG20) protein interacts with Eps15". Biochemical and Biophysical Research Communications. 334 (4): 1042–1048. doi:10.1016/j.bbrc.2005.06.201. PMID 16036216.

[Troyer2-5] 5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 Manzini, M. C.; Rajab, A.; Maynard, T. M.; Mochida, G. H.; Tan, W.; Nasir, R.; et al. (2010). "Developmental and degenerative features in a complicated spastic paraplegic". Annals of Neurology. 67 (4): 516–525. doi:10.1002/ana.21923. PMC 3027847. PMID 20437587.

[1]

[2]

[3]

[4]

[5]

@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Spartin''' is a [[protein]] that in humans is encoded by the ''SPG20'' [[gene]].<ref name="pmid6022528">{{cite journal | vauthors = Cross HE, McKusick VA | title = The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting | journal = Arch Neurol | volume = 16 | issue = 5 | pages = 473–85 |date=Jun 1967 | pmid = 6022528 | pmc =  | doi =  10.1001/archneur.1967.00470230025003}}</ref><ref name="pmid12134148">{{cite journal | vauthors = Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH | title = SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia | journal = Nat Genet | volume = 31 | issue = 4 | pages = 347–8 |date=Jul 2002 | pmid = 12134148 | pmc =  | doi = 10.1038/ng937 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SPG20 spastic paraplegia 20, spartin (Troyer syndrome)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23111| accessdate = }}</ref>
-| update_page = yes
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{GNF_Protein_box
- | image = PBB_Protein_SPG20_image.jpg
- | image_source = [[Protein_Data_Bank|PDB]] rendering based on 2dl1.
- | PDB = {{PDB2|2dl1}}
- | Name = Spastic paraplegia 20, spartin (Troyer syndrome)
- | HGNCid = 18514
- | Symbol = SPG20
- | AltSymbols =; KIAA0610; SPARTIN; TAHCCP1
- | OMIM = 607111
- | ECnumber =
- | Homologene = 32243
- | MGIid = 2139806
-  | GeneAtlas_image1 = PBB_GE_SPG20_212526_at_tn.png
- | GeneAtlas_image2 = PBB_GE_SPG20_216965_x_at_tn.png
- | Function =
- | Component =
- | Process =
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 23111
-    | Hs_Ensembl = ENSG00000133104
-    | Hs_RefseqProtein = NP_055902
-    | Hs_RefseqmRNA = NM_015087
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 13
-    | Hs_GenLoc_start = 35775162
-    | Hs_GenLoc_end = 35818420
-    | Hs_Uniprot = Q8N0X7
-    | Mm_EntrezGene = 229285
-    | Mm_Ensembl = ENSMUSG00000036580
-    | Mm_RefseqmRNA = NM_144895
-    | Mm_RefseqProtein = NP_659144
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 3
-    | Mm_GenLoc_start = 55200071
-    | Mm_GenLoc_end = 55225240
-    | Mm_Uniprot = Q3TVW1
-  }}
-}}
-'''Spastic paraplegia 20, spartin (Troyer syndrome)''', also known as '''SPG20''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SPG20 spastic paraplegia 20, spartin (Troyer syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23111| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{PBB_Summary
+{{PBB Summary
 | section_title =
-| summary_text = This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).<ref name="entrez">{{cite web | title = Entrez Gene: SPG20 spastic paraplegia 20, spartin (Troyer syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23111| accessdate = }}</ref>
+| summary_text = This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. [[Frameshift mutations]] associated with this gene cause autosomal recessive [[spastic paraplegia]] 20 (Troyer syndrome).<ref name="entrez"/>
+Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs).<ref name="troyer1">{{cite journal | author = Bakowska, J.C. | author2 = Jenkins, R. | author3 = Pendleton, J. | author4 = Blackstone, C. |title = The Troyer syndrome (SPG20) protein interacts with Eps15 |journal = Biochemical and Biophysical Research Communications |volume = 334 |pages = 1042–1048 |year = 2005 |pmid = 16036216|doi = 10.1016/j.bbrc.2005.06.201|pmc = |issue=4}}</ref> HSP is a category of [[neurological disorder]] characterized by [[spasticity]] and muscle weakness in the lower limbs.<ref name="troyer1" />
 }}
+==Background==
+The original description of this gene mutation and associated symptoms were described in 1967.<ref name="Troyer2">{{cite journal |author = Manzini, M. C. |author2 = Rajab, A. |author3 = Maynard, T. M. |author4 = Mochida, G. H. |author5 = Tan, W. |author6 = Nasir, R. |display-authors = etal |title = Developmental and degenerative features in a complicated spastic paraplegic. |journal = Annals of Neurology |volume = 67 |issue = 4 |pages = 516–525 |year = 2010 |pmid = 20437587|doi = 10.1002/ana.21923|pmc = 3027847}}</ref> This mutation is commonly found in high frequency with the Amish population.<ref name="pmid12134148" /> Newer studies have found that the mutation is not isolated to the Amish population, but also resides in the Omani population.<ref name="Troyer2" />
+==Presentation==
+This syndrome is not only characterized by  [[spasticity]] and weakness in the lower limbs, but also with [[dysarthria]], [[mental retardation]] or mild developmental delay, and muscle wasting or [[muscle atrophy]].<ref name="troyer1" />
+===Physical===
+Individuals appear to have difficulty walking, and report a clumsy, spastic gait which worsens over time.<ref name="Troyer2" />  Some additional common physical features include overgrowth of the jaw bone, hammer toes, hand and feet abnormalities, and [[pes cavus]].<ref name="Troyer2" />
+===Cognitive===
+Cognitive challenges, including developmental delay and difficulty with performance in school, may affect individuals with this syndrome.<ref name="Troyer2" />
+===Neurologic===
+Neurologic examination of individuals with this mutation may show [[dysmetria]] in the upper extremities, [[hyperreflexia]], distal amyotrophy and ankle [[clonus]], in addition to [[spasticity]], weakness and [[dysarthria]].<ref name="Troyer2" />
+===Diagnostic Imaging===
+The cerebellar vermis may present with mild atrophy and a loss of white matter volume.<ref name="Troyer2" />
+===Through Lifespan===
+Facial dysmorphism and subtle skeletal features are common in younger children.<ref name="Troyer2" /> The condition progressively worsens, as [[spasticity]] and distal amyotrophy symptoms are revealed more in teenage years.<ref name="Troyer2" /> SPG20 expression in the adult is relatively modest, however it is widespread in the nervous system.<ref name="Troyer2" /> Longitudinal comparison of magnetic resonance imaging concluded that there was a progression of the syndrome; thus, the condition appears to worsen over time.<ref name="Troyer2" />
 ==References==
-{{reflist|2}}
+{{reflist}}
+==External links==
+* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=spg20  GeneReviews/NCBI/NIH/UW entry on Troyer Syndrome] **
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Cross HE, McKusick VA |title=The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. |journal=Arch. Neurol. |volume=16 |issue= 5 |pages= 473-85 |year= 1967 |pmid= 6022528 |doi=  }}
+*{{cite journal   |vauthors=Hillier LD, Lennon G, Becker M, etal |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=10.1101/gr.6.9.807  }}
-*{{cite journal  | author=Hillier LD, Lennon G, Becker M, ''et al.'' |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807-28 |year= 1997 |pmid= 8889549 |doi=  }}
+*{{cite journal   |vauthors=Nagase T, Ishikawa K, Miyajima N, etal |title=Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 1 |pages= 31–9 |year= 1998 |pmid= 9628581 |doi=10.1093/dnares/5.1.31  }}
-*{{cite journal  | author=Nagase T, Ishikawa K, Miyajima N, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 1 |pages= 31-9 |year= 1998 |pmid= 9628581 |doi=  }}
+*{{cite journal   |vauthors=Auer-Grumbach M, Fazekas F, Radner H, etal |title=Troyer syndrome: a combination of central brain abnormality and motor neuron disease? |journal=J. Neurol. |volume=246 |issue= 7 |pages= 556–61 |year= 1999 |pmid= 10463356 |doi=10.1007/s004150050403  }}
-*{{cite journal  | author=Auer-Grumbach M, Fazekas F, Radner H, ''et al.'' |title=Troyer syndrome: a combination of central brain abnormality and motor neuron disease? |journal=J. Neurol. |volume=246 |issue= 7 |pages= 556-61 |year= 1999 |pmid= 10463356 |doi=  }}
+*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
-*{{cite journal  | author=Patel H, Cross H, Proukakis C, ''et al.'' |title=SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. |journal=Nat. Genet. |volume=31 |issue= 4 |pages= 347-8 |year= 2002 |pmid= 12134148 |doi= 10.1038/ng937 }}
+*{{cite journal   |vauthors=Ciccarelli FD, Proukakis C, Patel H, etal |title=The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. |journal=Genomics |volume=81 |issue= 4 |pages= 437–41 |year= 2003 |pmid= 12676568 |doi=10.1016/S0888-7543(03)00011-9  }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
-*{{cite journal  | author=Ciccarelli FD, Proukakis C, Patel H, ''et al.'' |title=The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. |journal=Genomics |volume=81 |issue= 4 |pages= 437-41 |year= 2003 |pmid= 12676568 |doi=  }}
+*{{cite journal   |vauthors=Dunham A, Matthews LH, Burton J, etal |title=The DNA sequence and analysis of human chromosome 13. |journal=Nature |volume=428 |issue= 6982 |pages= 522–8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379  | pmc=2665288 }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal   |vauthors=Liu M, Liu Y, Cheng J, etal |title=Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study. |journal=World J. Gastroenterol. |volume=10 |issue= 12 |pages= 1746–9 |year= 2004 |pmid= 15188498 |pmc=4572261 |doi=  }}
-*{{cite journal  | author=Dunham A, Matthews LH, Burton J, ''et al.'' |title=The DNA sequence and analysis of human chromosome 13. |journal=Nature |volume=428 |issue= 6982 |pages= 522-8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379 }}
+*{{cite journal   |vauthors=Colland F, Jacq X, Trouplin V, etal |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104  | pmc=442148 }}
-*{{cite journal  | author=Liu M, Liu Y, Cheng J, ''et al.'' |title=Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study. |journal=World J. Gastroenterol. |volume=10 |issue= 12 |pages= 1746-9 |year= 2004 |pmid= 15188498 |doi=  }}
+*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
-*{{cite journal  | author=Colland F, Jacq X, Trouplin V, ''et al.'' |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324-32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 }}
+*{{cite journal  | vauthors=Bakowska JC, Jenkins R, Pendleton J, Blackstone C |title=The Troyer syndrome (SPG20) protein spartin interacts with Eps15. |journal=Biochem. Biophys. Res. Commun. |volume=334 |issue= 4 |pages= 1042–8 |year= 2005 |pmid= 16036216 |doi= 10.1016/j.bbrc.2005.06.201 }}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
+*{{cite journal  | vauthors=Lu J, Rashid F, Byrne PC |title=The hereditary spastic paraplegia protein spartin localises to mitochondria. |journal=J. Neurochem. |volume=98 |issue= 6 |pages= 1908–19 |year= 2006 |pmid= 16945107 |doi= 10.1111/j.1471-4159.2006.04008.x }}
-*{{cite journal  | author=Bakowska JC, Jenkins R, Pendleton J, Blackstone C |title=The Troyer syndrome (SPG20) protein spartin interacts with Eps15. |journal=Biochem. Biophys. Res. Commun. |volume=334 |issue= 4 |pages= 1042-8 |year= 2005 |pmid= 16036216 |doi= 10.1016/j.bbrc.2005.06.201 }}
+*{{cite journal   |vauthors=Bakowska JC, Jupille H, Fatheddin P, etal |title=Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. |journal=Mol. Biol. Cell |volume=18 |issue= 5 |pages= 1683–92 |year= 2007 |pmid= 17332501 |doi= 10.1091/mbc.E06-09-0833  | pmc=1855030 }}
-*{{cite journal  | author=Lu J, Rashid F, Byrne PC |title=The hereditary spastic paraplegia protein spartin localises to mitochondria. |journal=J. Neurochem. |volume=98 |issue= 6 |pages= 1908-19 |year= 2006 |pmid= 16945107 |doi= 10.1111/j.1471-4159.2006.04008.x }}
+*{{cite journal | author = Bakowska, J.C. | author2 = Jenkins, R. | author3 = Pendleton, J. | author4 = Blackstone, C. |title = The Troyer syndrome (SPG20) protein interacts with Eps15 |journal = Biochemical and Biophysical Research Communications |volume = 334 |pages = 1042–1048 |year = 2005 |pmid = 16036216|doi = 10.1016/j.bbrc.2005.06.201|pmc = |issue=4}}
-*{{cite journal  | author=Bakowska JC, Jupille H, Fatheddin P, ''et al.'' |title=Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. |journal=Mol. Biol. Cell |volume=18 |issue= 5 |pages= 1683-92 |year= 2007 |pmid= 17332501 |doi= 10.1091/mbc.E06-09-0833 }}
+*{{cite journal |author = Manzini, M. C. |author2 = Rajab, A. |author3 = Maynard, T. M. |author4 = Mochida, G. H. |author5 = Tan, W. |author6 = Nasir, R. |display-authors = etal |title = Developmental and degenerative features in a complicated spastic paraplegic. |journal = Annals of Neurology |volume = 67 |issue = 4 |pages = 516–525 |year = 2010 |pmid = 20437587|doi = 10.1002/ana.21923|pmc = 3027847}}
+*{{cite journal |author = Ciccarelli, F. D. |author2 = Patton, M. A. |author3 = McKusick, V. A. |author4 = Crosby, A. H. |title = SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. |journal = Nature Genetics |volume = 31 |pages = 347–348|year = 2002 |pmid = 12134148|doi = 10.1038/ng937|pmc = |issue=4}}
 }}
 {{refend}}
+{{PDB Gallery|geneid=23111}}
+<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{PBB Controls
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
+| update_summary = yes
+| update_citations = yes
+}}
-{{protein-stub}}
+{{gene-13-stub}}
-{{WikiDoc Sources}}