TRAPPC2: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Trafficking protein particle complex subunit 2''' (TRAPPC2) also known as '''MBP-1-interacting protein 2A''' (MIP-2A) is a [[protein]] that in humans is encoded by the ''TRAPPC2'' [[gene]].<ref name="pmid14597397">{{cite journal |vauthors=Gecz J, Shaw MA, Bellon JR, de Barros Lopes M | title = Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not | journal = Gene | volume = 320 | issue =  | pages = 137–44 |date=November 2003 | pmid = 14597397 | pmc =  | doi =10.1016/S0378-1119(03)00819-9  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TRAPPC2 trafficking protein particle complex 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399| accessdate = }}</ref> A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.<ref name="entrez"/>
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| require_manual_inspection = no
| update_protein_box = yes
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| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_TRAPPC2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1h3q.
| PDB = {{PDB2|1h3q}}, {{PDB2|2j3w}}
| Name = Trafficking protein particle complex 2
| HGNCid = 23068
| Symbol = TRAPPC2
| AltSymbols =; MIP-2A; SEDL; SEDT; TRS20; ZNF547L; hYP38334
| OMIM = 300202
| ECnumber = 
| Homologene = 5436
| MGIid = 1913476
| GeneAtlas_image1 = PBB_GE_TRAPPC2_219351_at_tn.png
| GeneAtlas_image2 = PBB_GE_TRAPPC2_209751_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005478 |text = transporter activity}} {{GNF_GO|id=GO:0008134 |text = transcription factor binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006888 |text = ER to Golgi vesicle-mediated transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6399
    | Hs_Ensembl = ENSG00000196459
    | Hs_RefseqProtein = NP_001011658
    | Hs_RefseqmRNA = NM_001011658
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 13640282
    | Hs_GenLoc_end = 13662648
    | Hs_Uniprot = O14582
    | Mm_EntrezGene = 66226
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_025432
    | Mm_RefseqProtein = NP_079708
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Trafficking protein particle complex 2''', also known as '''TRAPPC2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TRAPPC2 trafficking protein particle complex 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Trafficking protein particle complex subunit 2 is thought to be part of a large multisubunit complex involved in the targeting and fusion of [[endoplasmic reticulum]]-to-[[Golgi apparatus|Golgi]] [[Vesicle (biology and chemistry)#Transport vesicles|transport vesicle]]s with their acceptor compartment. In addition, the encoded protein can bind [[alpha-enolase|MBP1]] and block its transcriptional repression capability.<ref name="entrez"/>
{{PBB_Summary
 
| section_title =
== Genetic Location ==
| summary_text = The protein encoded by this gene is thought to be part of a large multisubunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind MBP1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: TRAPPC2 trafficking protein particle complex 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399| accessdate = }}</ref>
 
}}
The TRAPPC2 gene is located on the [[X-chromosome]] at position 22 between base-pairs 13,712,241 to 13,734,634.<ref>{{cite web | title = TRAPPC2 gene at Genetics Home Reference| url = http://ghr.nlm.nih.gov/gene/TRAPPC2| accessdate = }}</ref>
 
== Clinical significance ==
 
Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).<ref name="entrez"/>
 
==Interactions==
TRAPPC2 has been shown to [[Protein-protein interaction|interact]] with [[Alpha-enolase]]<ref name=pmid11134351>{{cite journal |last=Ghosh |first=A K |authorlink= |author2=Majumder M |author3=Steele R |author4=White R A |author5=Ray R B  |date=January 2001 |title=A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1 |journal=Mol. Cell. Biol. |volume=21 |issue=2 |pages=655–62 |publisher= |location = UNITED STATES| issn = 0270-7306| pmid = 11134351 |doi = 10.1128/MCB.21.2.655-662.2001 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=86643 }}</ref> and [[CLIC1]].<ref name=pmid12681486>{{cite journal |last=Fan |first=Libin |authorlink= |author2=Yu Wei |author3=Zhu Xueliang  |date=April 2003 |title=Interaction of Sedlin with chloride intracellular channel proteins |journal=FEBS Lett. |volume=540 |issue=1–3 |pages=77–80 |publisher= |location = Netherlands| issn = 0014-5793| pmid = 12681486 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1016/S0014-5793(03)00228-X }}</ref>


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading
*{{cite journal   |vauthors=Shaw MA, Brunetti-Pierri N, Kádasi L, etal |title=Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4 |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 235–42 |year= 2004 |pmid= 12919139 |doi=10.1034/j.1399-0004.2003.00132.x }}
| citations =
*{{cite journal   |vauthors=Adams MD, Soares MB, Kerlavage AR, etal |title=Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library |journal=Nat. Genet. |volume=4 |issue= 4 |pages= 373–80 |year= 1993 |pmid= 8401585 |doi= 10.1038/ng0893-373 }}
*{{cite journal | author=Shaw MA, Brunetti-Pierri N, Kádasi L, ''et al.'' |title=Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 235-42 |year= 2004 |pmid= 12919139 |doi=  }}
*{{cite journal   |vauthors=Bernard LE, Chitayat D, Weksberg R, etal |title=Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia |journal=J. Med. Genet. |volume=33 |issue= 5 |pages= 432–4 |year= 1996 |pmid= 8733060 |doi=10.1136/jmg.33.5.432  | pmc=1050619 }}
*{{cite journal | author=Adams MD, Soares MB, Kerlavage AR, ''et al.'' |title=Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. |journal=Nat. Genet. |volume=4 |issue= 4 |pages= 373-80 |year= 1993 |pmid= 8401585 |doi= 10.1038/ng0893-373 }}
*{{cite journal  |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791  }}
*{{cite journal | author=Bernard LE, Chitayat D, Weksberg R, ''et al.'' |title=Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. |journal=J. Med. Genet. |volume=33 |issue= 5 |pages= 432-4 |year= 1996 |pmid= 8733060 |doi=  }}
*{{cite journal   |vauthors=Gedeon AK, Colley A, Jamieson R, etal |title=Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda |journal=Nat. Genet. |volume=22 |issue= 4 |pages= 400–4 |year= 1999 |pmid= 10431248 |doi= 10.1038/11976 }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi= }}
*{{cite journal   |vauthors=Gécz J, Hillman MA, Gedeon AK, etal |title=Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda |journal=Genomics |volume=69 |issue= 2 |pages= 242–51 |year= 2001 |pmid= 11031107 |doi= 10.1006/geno.2000.6326 }}
*{{cite journal | author=Gedeon AK, Colley A, Jamieson R, ''et al.'' |title=Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. |journal=Nat. Genet. |volume=22 |issue= 4 |pages= 400-4 |year= 1999 |pmid= 10431248 |doi= 10.1038/11976 }}
*{{cite journal   |vauthors=Ghosh AK, Majumder M, Steele R, etal |title=A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1 |journal=Mol. Cell. Biol. |volume=21 |issue= 2 |pages= 655–62 |year= 2001 |pmid= 11134351 |doi= 10.1128/MCB.21.2.655-662.2001 | pmc=86643 }}
*{{cite journal | author=Gécz J, Hillman MA, Gedeon AK, ''et al.'' |title=Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. |journal=Genomics |volume=69 |issue= 2 |pages= 242-51 |year= 2001 |pmid= 11031107 |doi= 10.1006/geno.2000.6326 }}
*{{cite journal   |vauthors=Gedeon AK, Tiller GE, Le Merrer M, etal |title=The molecular basis of X-linked spondyloepiphyseal dysplasia tarda |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1386–97 |year= 2001 |pmid= 11349230 |doi=10.1086/320592  | pmc=1226125 }}
*{{cite journal | author=Ghosh AK, Majumder M, Steele R, ''et al.'' |title=A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1. |journal=Mol. Cell. Biol. |volume=21 |issue= 2 |pages= 655-62 |year= 2001 |pmid= 11134351 |doi= 10.1128/MCB.21.2.655-662.2001 }}
*{{cite journal   |vauthors=Grunebaum E, Arpaia E, MacKenzie JJ, etal |title=A missense mutation in the SEDL gene results in      delayed onset of X linked spondyloepiphyseal      dysplasia in a large pedigree |journal=J. Med. Genet. |volume=38 |issue= 6 |pages= 409–11 |year= 2001 |pmid= 11424925 |doi=10.1136/jmg.38.6.409  | pmc=1734897 }}
*{{cite journal | author=Gedeon AK, Tiller GE, Le Merrer M, ''et al.'' |title=The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1386-97 |year= 2001 |pmid= 11349230 |doi=  }}
*{{cite journal   |vauthors=Mumm S, Zhang X, Vacca M, etal |title=The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site |journal=Gene |volume=273 |issue= 2 |pages= 285–93 |year= 2001 |pmid= 11595175 |doi=10.1016/S0378-1119(01)00571-6 }}
*{{cite journal | author=Grunebaum E, Arpaia E, MacKenzie JJ, ''et al.'' |title=A missense mutation in the SEDL gene results in      delayed onset of X linked spondyloepiphyseal      dysplasia in a large pedigree. |journal=J. Med. Genet. |volume=38 |issue= 6 |pages= 409-11 |year= 2001 |pmid= 11424925 |doi=  }}
*{{cite journal   |vauthors=Gavin AC, Bösche M, Krause R, etal |title=Functional organization of the yeast proteome by systematic analysis of protein complexes |journal=Nature |volume=415 |issue= 6868 |pages= 141–7 |year= 2002 |pmid= 11805826 |doi= 10.1038/415141a }}
*{{cite journal | author=Mumm S, Zhang X, Vacca M, ''et al.'' |title=The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. |journal=Gene |volume=273 |issue= 2 |pages= 285-93 |year= 2001 |pmid= 11595175 |doi=  }}
*{{cite journal   |vauthors=Takahashi T, Takahashi I, Tsuchida S, etal |title=An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda |journal=Clin. Genet. |volume=61 |issue= 4 |pages= 319–20 |year= 2003 |pmid= 12030902 |doi=10.1034/j.1399-0004.2002.610416.x  }}
*{{cite journal | author=Gavin AC, Bösche M, Krause R, ''et al.'' |title=Functional organization of the yeast proteome by systematic analysis of protein complexes. |journal=Nature |volume=415 |issue= 6868 |pages= 141-7 |year= 2002 |pmid= 11805826 |doi= 10.1038/415141a }}
*{{cite journal  |vauthors=Fiedler J, Bittner M, Puhl W, Brenner RE |title=Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men |journal=Clin. Genet. |volume=62 |issue= 1 |pages= 94–5 |year= 2003 |pmid= 12123495 |doi=10.1034/j.1399-0004.2002.620114.x }}
*{{cite journal | author=Takahashi T, Takahashi I, Tsuchida S, ''et al.'' |title=An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. |journal=Clin. Genet. |volume=61 |issue= 4 |pages= 319-20 |year= 2003 |pmid= 12030902 |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=Fiedler J, Bittner M, Puhl W, Brenner RE |title=Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. |journal=Clin. Genet. |volume=62 |issue= 1 |pages= 94-5 |year= 2003 |pmid= 12123495 |doi=  }}
*{{cite journal   |vauthors=Gao C, Luo Q, Wang HL, etal |title=[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda] |journal=Zhonghua Yi Xue Yi Chuan Xue Za Zhi |volume=20 |issue= 1 |pages= 15–8 |year= 2003 |pmid= 12579492 |doi=  }}
*{{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=Xiao C, Zhang S, Wang J, etal |title=A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family |journal=Mutat. Res. |volume=525 |issue= 1–2 |pages= 61–5 |year= 2003 |pmid= 12650905 |doi=  10.1016/s0027-5107(02)00315-9}}
*{{cite journal | author=Gao C, Luo Q, Wang HL, ''et al.'' |title=[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda] |journal=Zhonghua Yi Xue Yi Chuan Xue Za Zhi |volume=20 |issue= 1 |pages= 15-8 |year= 2003 |pmid= 12579492 |doi=  }}
*{{cite journal  |vauthors=Fan L, Yu W, Zhu X |title=Interaction of Sedlin with chloride intracellular channel proteins |journal=FEBS Lett. |volume=540 |issue= 1–3 |pages= 77–80 |year= 2003 |pmid= 12681486 |doi=10.1016/S0014-5793(03)00228-X }}
*{{cite journal | author=Xiao C, Zhang S, Wang J, ''et al.'' |title=A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. |journal=Mutat. Res. |volume=525 |issue= 1-2 |pages= 61-5 |year= 2003 |pmid= 12650905 |doi=  }}
*{{cite journal  |vauthors=Savarirayan R, Thompson E, Gécz J |title=Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400) |journal=Eur. J. Hum. Genet. |volume=11 |issue= 9 |pages= 639–42 |year= 2004 |pmid= 12939648 |doi= 10.1038/sj.ejhg.5201025 }}
*{{cite journal  | author=Fan L, Yu W, Zhu X |title=Interaction of Sedlin with chloride intracellular channel proteins. |journal=FEBS Lett. |volume=540 |issue= 1-3 |pages= 77-80 |year= 2003 |pmid= 12681486 |doi=  }}
{{Refend}}
*{{cite journal  | author=Savarirayan R, Thompson E, Gécz J |title=Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). |journal=Eur. J. Hum. Genet. |volume=11 |issue= 9 |pages= 639-42 |year= 2004 |pmid= 12939648 |doi= 10.1038/sj.ejhg.5201025 }}
 
*{{cite journal  | author=Gécz J, Shaw MA, Bellon JR, de Barros Lopes M |title=Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. |journal=Gene |volume=320 |issue=  |pages= 137-44 |year= 2004 |pmid= 14597397 |doi=  }}
==External links==
}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sedt  GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda]
{{refend}}
* [https://www.ncbi.nlm.nih.gov/omim/300202,313400,300202,313400  OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda]
 
{{PDB Gallery|geneid=6399}}
 


{{protein-stub}}
{{Gene-X-stub}}
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Latest revision as of 12:14, 15 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Trafficking protein particle complex subunit 2 (TRAPPC2) also known as MBP-1-interacting protein 2A (MIP-2A) is a protein that in humans is encoded by the TRAPPC2 gene.[1][2] A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.[2]

Function

Trafficking protein particle complex subunit 2 is thought to be part of a large multisubunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind MBP1 and block its transcriptional repression capability.[2]

Genetic Location

The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634.[3]

Clinical significance

Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).[2]

Interactions

TRAPPC2 has been shown to interact with Alpha-enolase[4] and CLIC1.[5]

References

  1. Gecz J, Shaw MA, Bellon JR, de Barros Lopes M (November 2003). "Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not". Gene. 320: 137–44. doi:10.1016/S0378-1119(03)00819-9. PMID 14597397.
  2. 2.0 2.1 2.2 2.3 "Entrez Gene: TRAPPC2 trafficking protein particle complex 2".
  3. "TRAPPC2 gene at Genetics Home Reference".
  4. Ghosh, A K; Majumder M; Steele R; White R A; Ray R B (January 2001). "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1". Mol. Cell. Biol. UNITED STATES. 21 (2): 655–62. doi:10.1128/MCB.21.2.655-662.2001. ISSN 0270-7306. PMC 86643. PMID 11134351.
  5. Fan, Libin; Yu Wei; Zhu Xueliang (April 2003). "Interaction of Sedlin with chloride intracellular channel proteins". FEBS Lett. Netherlands. 540 (1–3): 77–80. doi:10.1016/S0014-5793(03)00228-X. ISSN 0014-5793. PMID 12681486.

Further reading

External links