ELOVL4

ELOVL fatty acid elongase 4
Identifiers
Symbols	ELOVL4 ; ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
External IDs	OMIM: 605512 MGI: 1933331 HomoloGene: 41488 GeneCards: ELOVL4 Gene
EC number	2.3.1.199
Gene ontology Molecular function • protein binding • G-protein coupled photoreceptor activity • transferase activity Cellular component • endoplasmic reticulum • integral component of endoplasmic reticulum membrane Biological process • fatty acid biosynthetic process • detection of visible light • fatty acid elongation, saturated fatty acid • triglyceride biosynthetic process • long-chain fatty-acyl-CoA biosynthetic process • very long-chain fatty acid biosynthetic process • cellular lipid metabolic process • small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6785	83603
Ensembl	ENSG00000118402	ENSMUSG00000032262
UniProt	Q9GZR5	Q9EQC4
RefSeq (mRNA)	NM_022726	NM_148941
RefSeq (protein)	NP_073563	NP_683743
Location (UCSC)	Chr 6: 79.91 – 79.95 Mb	Chr 9: 83.78 – 83.81 Mb
PubMed search

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

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".

See also

• Stargardt disease

Further reading

• Zhang K, Bither PP, Park R, et al. (1994). "A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34". Arch. Ophthalmol. 112 (6): 759–64. doi:10.1001/archopht.1994.01090180057035. PMID 8002833.
• Stone EM, Nichols BE, Kimura AE, et al. (1994). "Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q". Arch. Ophthalmol. 112 (6): 765–72. doi:10.1001/archopht.1994.01090180063036. PMID 8002834.
• Edwards AO, Miedziak A, Vrabec T, et al. (1999). "Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14". Am. J. Ophthalmol. 127 (4): 426–35. doi:10.1016/S0002-9394(98)00331-6. PMID 10218695.
• Li Y, Marcos I, Borrego S, et al. (2001). "Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus". J. Med. Genet. 38 (7): 478–80. doi:10.1136/jmg.38.7.478. PMC 1757187. PMID 11474659.
• Edwards AO, Donoso LA, Ritter R (2001). "A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family". Invest. Ophthalmol. Vis. Sci. 42 (11): 2652–63. PMID 11581213.
• 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.
• Rivolta C, Ayyagari R, Sieving PA, et al. (2003). "Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis". Mol. Vis. 9: 49–51. PMID 12592226.
• Lagali PS, Liu J, Ambasudhan R, et al. (2003). "Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina". Invest. Ophthalmol. Vis. Sci. 44 (7): 2841–50. doi:10.1167/iovs.02-0991. PMID 12824221.
• Vrabec TR, Tantri A, Edwards A, et al. (2003). "Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene". Am. J. Ophthalmol. 136 (3): 542–5. doi:10.1016/S0002-9394(03)00227-7. PMID 12967813.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
• 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.
• Ambasudhan R, Wang X, Jablonski MM, et al. (2004). "Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein". Genomics 83 (4): 615–25. doi:10.1016/j.ygeno.2003.10.004. PMID 15028284.
• 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.
• Grayson C, Molday RS (2005). "Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4". J. Biol. Chem. 280 (37): 32521–30. doi:10.1074/jbc.M503411200. PMID 16036915.
• Lai Z, Zhang XN, Zhou W, et al. (2006). "Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy". J. Cell. Mol. Med. 9 (4): 961–5. doi:10.1111/j.1582-4934.2005.tb00392.x. PMID 16364203.
• Hubbard AF, Askew EW, Singh N, et al. (2006). "Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation". Arch. Ophthalmol. 124 (2): 257–63. doi:10.1001/archopht.124.2.257. PMID 16476896.
• Seitsonen S, Lemmelä S, Holopainen J, et al. (2006). "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". Mol. Vis. 12: 796–801. PMID 16885922.
• McMahon A, Butovich IA, Mata NL, et al. (2007). "Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4". Mol. Vis. 13: 258–72. PMC 2633486. PMID 17356513.