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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 3-keto acyl-CoA synthase ELOVL4; cancer/testis antigen 118; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4; Elongation of very long chain fatty acids protein 4; elongation of very long chain fatty acids-like 4; ELOVL FA elongase 4; ELOVL fatty acid elongase 4; FLJ17667; FLJ92876; Very long chain 3-ketoacyl-CoA synthase 4; Very long chain 3-oxoacyl-CoA synthase 4; Very long chain fatty acid elongase 4; very-long-chain 3-oxoacyl-CoA synthase 4
基因别名: ADMD; CT118; ELOVL4; ISQMR; SCA34; STGD2; STGD3
UniProt ID: (Human) Q9GZR5
Entrez Gene ID: (Human) 6785, (Rat) 315851