ELOVL4 Rabbit Polyclonal Antibody

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], disease:Defects in ELOVL4 are the cause of macular dystrophy autosomal dominant chromosome 6-linked (ADMD) [MIM:600110]. A form of macular degeneration characterized by decreased visual acuity, macular atrophy and extensive fundus flecks., disease:Defects in ELOVL4 are the cause of Stargardt disease type 3 (STGD3) [MIM:600110]. STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD3 inheritance is autosomal dominant., domain:The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins., function:Involved in the biosynthesis of very long chain fatty acids. Seems to represent a photoreceptor-specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May be involved in one of these three elongation steps., online information:Retina International's Scientific Newsletter, similarity:Belongs to the ELO family., tissue specificity:Expressed in the retina and at much lower level in the brain.