ELOVL4: Difference between revisions

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{{Infobox_gene}}
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'''Elongation of very long chain fatty acids protein 4''' is a [[protein]] that in humans is encoded by the ''ELOVL4'' [[gene]].<ref name="pmid11138005">{{cite journal | vauthors = Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K | title = A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy | journal = Nat Genet | volume = 27 | issue = 1 | pages = 89–93 |date=Jan 2001 | pmid = 11138005 | pmc =  | doi = 10.1038/83817 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6785| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
| HGNCid = 14415
| Symbol = ELOVL4
| AltSymbols =; ADMD; STGD2; STGD3
| OMIM = 605512
| ECnumber = 
| Homologene = 41488
| MGIid = 1933331
| GeneAtlas_image1 = PBB_GE_ELOVL4_219532_at_tn.png
| Function = {{GNF_GO|id=GO:0008020 |text = G-protein coupled photoreceptor activity}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
  | Process = {{GNF_GO|id=GO:0006633 |text = fatty acid biosynthetic process}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6785
    | Hs_Ensembl = ENSG00000118402
    | Hs_RefseqProtein = NP_073563
    | Hs_RefseqmRNA = NM_022726
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 80681248
    | Hs_GenLoc_end = 80714016
    | Hs_Uniprot = Q9GZR5
    | Mm_EntrezGene = 83603
    | Mm_Ensembl = ENSMUSG00000032262
    | Mm_RefseqmRNA = NM_148941
    | Mm_RefseqProtein = NP_683743
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 83575418
    | Mm_GenLoc_end = 83602883
    | Mm_Uniprot = Q8JZV3
  }}
}}
'''Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4''', also known as '''ELOVL4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6785| accessdate = }}</ref>
 
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==See also==
* [[Stargardt disease]]


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Zhang K, Bither PP, Park R, ''et al.'' |title=A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. |journal=Arch. Ophthalmol. |volume=112 |issue= 6 |pages= 759-64 |year= 1994 |pmid= 8002833 |doi=  }}
*{{cite journal  | author=Zhang K |title=A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34 |journal=Arch. Ophthalmol. |volume=112 |issue= 6 |pages= 759–64 |year= 1994 |pmid= 8002833 |doi=  10.1001/archopht.1994.01090180057035|name-list-format=vanc| author2=Bither PP | author3=Park R  | display-authors=3  | last4=Donoso  | first4=LA  | last5=Seidman  | first5=JG  | last6=Seidman  | first6=CE }}
*{{cite journal | author=Stone EM, Nichols BE, Kimura AE, ''et al.'' |title=Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. |journal=Arch. Ophthalmol. |volume=112 |issue= 6 |pages= 765-72 |year= 1994 |pmid= 8002834 |doi=  }}
*{{cite journal  | author=Stone EM |title=Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q |journal=Arch. Ophthalmol. |volume=112 |issue= 6 |pages= 765–72 |year= 1994 |pmid= 8002834 |doi=  10.1001/archopht.1994.01090180063036|name-list-format=vanc| author2=Nichols BE  | author3=Kimura AE  | display-authors=3  | last4=Weingeist  | first4=TA  | last5=Drack  | first5=A  | last6=Sheffield  | first6=VC  }}
*{{cite journal  | author=Edwards AO, Miedziak A, Vrabec T, ''et al.'' |title=Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. |journal=Am. J. Ophthalmol. |volume=127 |issue= 4 |pages= 426-35 |year= 1999 |pmid= 10218695 |doi=  }}
*{{cite journal  | author=Edwards AO |title=Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14 |journal=Am. J. Ophthalmol. |volume=127 |issue= 4 |pages= 426–35 |year= 1999 |pmid= 10218695 |doi=10.1016/S0002-9394(98)00331-6 |name-list-format=vanc| author2=Miedziak A | author3=Vrabec T  | display-authors=3  | last4=Verhoeven  | first4=Janneke  | last5=Acott  | first5=Ted S  | last6=Weleber  | first6=Richard G  | last7=Donoso  | first7=Larry A }}
*{{cite journal  | author=Zhang K, Kniazeva M, Han M, ''et al.'' |title=A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 89-93 |year= 2001 |pmid= 11138005 |doi= 10.1038/83817 }}
*{{cite journal  | author=Li Y |title=Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus |journal=J. Med. Genet. |volume=38 |issue= 7 |pages= 478–80 |year= 2001 |pmid= 11474659 |doi=10.1136/jmg.38.7.478 | pmc=1757187  |name-list-format=vanc| author2=Marcos I  | author3=Borrego S  | display-authors=3  | last4=Yu  | first4=Z | last5=Zhang  | first5=K  | last6=Antiñolo  | first6=G }}
*{{cite journal  | author=Li Y, Marcos I, Borrego S, ''et al.'' |title=Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. |journal=J. Med. Genet. |volume=38 |issue= 7 |pages= 478-80 |year= 2001 |pmid= 11474659 |doi=  }}
*{{cite journal  | vauthors=Edwards AO, Donoso LA, Ritter R |title=A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family |journal=Invest. Ophthalmol. Vis. Sci. |volume=42 |issue= 11 |pages= 2652–63 |year= 2001 |pmid= 11581213 |doi=  }}
*{{cite journal | author=Edwards AO, Donoso LA, Ritter R |title=A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. |journal=Invest. Ophthalmol. Vis. Sci. |volume=42 |issue= 11 |pages= 2652-63 |year= 2001 |pmid= 11581213 |doi=  }}
*{{cite journal  | author=Strausberg RL |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 |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{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  | author=Rivolta C |title=Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis |journal=Mol. Vis. |volume=9 |issue=  |pages= 49–51 |year= 2003 |pmid= 12592226 |doi= |name-list-format=vanc| author2=Ayyagari R  | author3=Sieving PA  | display-authors=3  | last4=Berson  | first4=EL  | last5=Dryja  | first5=TP  }}
*{{cite journal | author=Rivolta C, Ayyagari R, Sieving PA, ''et al.'' |title=Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. |journal=Mol. Vis. |volume=9 |issue=  |pages= 49-51 |year= 2003 |pmid= 12592226 |doi=  }}
*{{cite journal  | author=Lagali PS |title=Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 7 |pages= 2841–50 |year= 2003 |pmid= 12824221 |doi=10.1167/iovs.02-0991 |name-list-format=vanc| author2=Liu J  | author3=Ambasudhan R  | display-authors=3  | last4=Kakuk  | first4=LE  | last5=Bernstein  | first5=SL  | last6=Seigel  | first6=GM  | last7=Wong  | first7=PW  | last8=Ayyagari  | first8=R  }}
*{{cite journal  | author=Lagali PS, Liu J, Ambasudhan R, ''et al.'' |title=Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 7 |pages= 2841-50 |year= 2003 |pmid= 12824221 |doi=  }}
*{{cite journal  | author=Vrabec TR |title=Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene |journal=Am. J. Ophthalmol. |volume=136 |issue= 3 |pages= 542–5 |year= 2003 |pmid= 12967813 |doi=10.1016/S0002-9394(03)00227-7 |name-list-format=vanc| author2=Tantri A | author3=Edwards A  | display-authors=3  | last4=Frost  | first4=Arcilee  | last5=Donoso  | first5=Larry A.  }}
*{{cite journal  | author=Vrabec TR, Tantri A, Edwards A, ''et al.'' |title=Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene. |journal=Am. J. Ophthalmol. |volume=136 |issue= 3 |pages= 542-5 |year= 2003 |pmid= 12967813 |doi=  }}
*{{cite journal  | author=Mungall AJ |title=The DNA sequence and analysis of human chromosome 6 |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055  |name-list-format=vanc| author2=Palmer SA  | author3=Sims SK | display-authors=3  | last4=Edwards  | first4=C. A.  | last5=Ashurst  | first5=J. L.  | last6=Wilming  | first6=L.  | last7=Jones  | first7=M. C.  | last8=Horton  | first8=R. | last9=Hunt | first9=S. E. }}
*{{cite journal | author=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805-11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
*{{cite journal  | author=Ota T |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  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{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  | author=Ambasudhan R |title=Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein |journal=Genomics |volume=83 |issue= 4 |pages= 615–25 |year= 2004 |pmid= 15028284 |doi= 10.1016/j.ygeno.2003.10.004  |name-list-format=vanc| author2=Wang X  | author3=Jablonski MM  | display-authors=3  | last4=Thompson  | first4=Debra A  | last5=Lagali  | first5=Pamela S  | last6=Wong  | first6=Paul W  | last7=Sieving  | first7=Paul A  | last8=Ayyagari  | first8=Radha }}
*{{cite journal | author=Ambasudhan R, Wang X, Jablonski MM, ''et al.'' |title=Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. |journal=Genomics |volume=83 |issue= 4 |pages= 615-25 |year= 2004 |pmid= 15028284 |doi= 10.1016/j.ygeno.2003.10.004 }}
*{{cite journal  | author=Gerhard DS |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  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{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=Grayson C, Molday RS |title=Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4 |journal=J. Biol. Chem. |volume=280 |issue= 37 |pages= 32521–30 |year= 2005 |pmid= 16036915 |doi= 10.1074/jbc.M503411200 }}
*{{cite journal | author=Grayson C, Molday RS |title=Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4. |journal=J. Biol. Chem. |volume=280 |issue= 37 |pages= 32521-30 |year= 2005 |pmid= 16036915 |doi= 10.1074/jbc.M503411200 }}
*{{cite journal  | author=Lai Z |title=Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy |journal=J. Cell. Mol. Med. |volume=9 |issue= 4 |pages= 961–5 |year= 2006 |pmid= 16364203 |doi=10.1111/j.1582-4934.2005.tb00392.x  |name-list-format=vanc| author2=Zhang XN  | author3=Zhou W  | display-authors=3  | last4=Yu  | first4=Rui  | last5=Le  | first5=Yan-Ping  }}
*{{cite journal  | author=Lai Z, Zhang XN, Zhou W, ''et al.'' |title=Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy. |journal=J. Cell. Mol. Med. |volume=9 |issue= 4 |pages= 961-5 |year= 2006 |pmid= 16364203 |doi=  }}
*{{cite journal  | author=Hubbard AF |title=Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation |journal=Arch. Ophthalmol. |volume=124 |issue= 2 |pages= 257–63 |year= 2006 |pmid= 16476896 |doi= 10.1001/archopht.124.2.257  |name-list-format=vanc| author2=Askew EW  | author3=Singh N  | display-authors=3  | last4=Leppert  | first4=M  | last5=Bernstein  | first5=PS }}
*{{cite journal | author=Hubbard AF, Askew EW, Singh N, ''et al.'' |title=Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation. |journal=Arch. Ophthalmol. |volume=124 |issue= 2 |pages= 257-63 |year= 2006 |pmid= 16476896 |doi= 10.1001/archopht.124.2.257 }}
*{{cite journal  | author=Seitsonen S |title=Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population |journal=Mol. Vis. |volume=12 |issue=  |pages= 796–801 |year= 2006 |pmid= 16885922 |doi=  |name-list-format=vanc| author2=Lemmelä S  | author3=Holopainen J  | display-authors=3  | last4=Tommila  | first4=P  | last5=Ranta  | first5=P  | last6=Kotamies  | first6=A  | last7=Moilanen  | first7=J  | last8=Palosaari  | first8=T  | last9=Kaarniranta  | first9=K  }}
*{{cite journal | author=Seitsonen S, Lemmelä S, Holopainen J, ''et al.'' |title=Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. |journal=Mol. Vis. |volume=12 |issue=  |pages= 796-801 |year= 2006 |pmid= 16885922 |doi=  }}
*{{cite journal  | author=McMahon A |title=Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4 |journal=Mol. Vis. |volume=13 |issue=  |pages= 258–72 |year= 2007 |pmid= 17356513 |doi=  | pmc=2633486  |name-list-format=vanc| author2=Butovich IA  | author3=Mata NL  | display-authors=3  | last4=Klein  | first4=M  | last5=Ritter r  | first5=3rd  | last6=Richardson  | first6=J  | last7=Birch  | first7=DG  | last8=Edwards  | first8=AO  | last9=Kedzierski  | first9=W }}
*{{cite journal  | author=McMahon A, Butovich IA, Mata NL, ''et al.'' |title=Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4. |journal=Mol. Vis. |volume=13 |issue= |pages= 258-72 |year= 2007 |pmid= 17356513 |doi=  }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 00:28, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.[1][2]


See also

References

  1. ↑ Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K (Jan 2001). "A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy". Nat Genet. 27 (1): 89–93. doi:10.1038/83817. PMID 11138005.
  2. ↑ "Entrez Gene: ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4".

Further reading



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