ELOVL4 Antibody – Rabbit Polyclonal

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]

ELOVL4: Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. 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 play a critical role in early brain and skin development. Defects in ELOVL4 are the cause of Stargardt disease type 3 (STGD3). 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. Defects in ELOVL4 are the cause of ichthyosis, spastic quadriplegia, and mental retardation (ISQMR). A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. Belongs to the ELO family.

Protein type: Endoplasmic reticulum; Membrane protein, integral; Cancer Testis Antigen (CTA); EC 2.3.1.199; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 6q14

Cellular Component: endoplasmic reticulum; integral to endoplasmic reticulum membrane

Molecular Function: G-protein coupled photoreceptor activity; protein binding; transferase activity

Biological Process: detection of visible light; fatty acid biosynthetic process; fatty acid elongation, saturated fatty acid; very-long-chain fatty acid biosynthetic process

Disease: Spinocerebellar Ataxia 34