ELOVL4
Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 | |||||||||||
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Identifiers | |||||||||||
Symbols | ELOVL4 ; ADMD; STGD2; STGD3 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 41488 | ||||||||||
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RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4, also known as ELOVL4, is a human gene.[1]
References
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. 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. 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. PMID 10218695.
- Zhang K, Kniazeva M, Han M; et al. (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.
- 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. 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. 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. 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. 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. 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. 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. PMID 17356513.
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