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Rabbit Anti-ELOVL4 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]
Function:
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
Subunit:
Oligomer.
Subcellular Location:
Endoplasmic reticulum membrane.
Tissue Specificity:
Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no espression in heart, lung, liver, or leukocates.
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.
Similarity:
Belongs to the ELO family.
SWISS:
Q9GZR5
Gene ID:
6785
Database links:
Entrez Gene: 6785 Human
Entrez Gene: 8723 Mouse
Omim: 605512 Human
SwissProt: Q9GZR5 Human
SwissProt: Q9EQC4 Mouse
SwissProt: Q920L7 Rat
Unigene: 101915 Human
Unigene: 83949 Mouse
Unigene: 7567 Rat
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