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ELOVL4 - ELOVL fatty acid elongase 4
Canonical
Pathway
Entrez Gene Name: ELOVL fatty acid elongase 4
Entrez GeneID: Human(6785)
, Mouse(83603), Rat(315851)
, Mouse(83603), Rat(315851) Synonyms: ADMD, CT118, ELOVL4, FLJ17667, FLJ92876, STGD2, STGD3
Gene Summary
- Human (6785): This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Binds:
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Biological Process
cellular lipid metabolic process, detection of visible light, fatty acid biosynthetic process, fatty acid elongation, saturated fatty acid, lipid biosynthetic process, long-chain fatty-acyl-CoA biosynthetic process, triglyceride biosynthetic process, very long-chain fatty acid biosynthetic process
Cellular Components
endoplasmic reticulum, endoplasmic reticulum membrane, integral to endoplasmic reticulum membrane, integral to membrane, membrane
Literature References
- 11138005Zhang 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. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.Nat Genet 2001 Jan;27(1):89-93
- 12847421Zhang XM, Yang Z, Karan G, Hashimoto T, Baehr W, Yang XJ, Zhang K. Elovl4 mRNA distribution in the developing mouse retina and phylogenetic conservation of Elovl4 genes.Mol Vis 2003 Jul 03;9:301-7
- 12824221Lagali PS, Liu J, Ambasudhan R, Kakuk LE, Bernstein SL, Seigel GM, Wong PW, Ayyagari R. Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina.Invest Ophthalmol Vis Sci 2003 Jul 01;44(7):2841-50
Molecular Functions
G-protein coupled photoreceptor activity, protein binding, transferase activity, transferase activity, transferring acyl groups other than amino-acyl groups
Subcellular Locations
Cytoplasm, endoplasmic reticulum, endoplasmic reticulum membrane, Golgi apparatus, membrane processes, photoreceptor inner segments