Gene Symbol | ELOVL4 |
Entrez Gene ID | 6785 |
Full Name | ELOVL fatty acid elongase 4 |
Synonyms | ADMD,CT118,ISQMR,SCA34,STGD2,STGD3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Stargardt disease 3, 600110 (3); Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3); Spinocerebellar ataxia 34, 133190 (3) |