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MGP003009

UniProt Annotations

Entry Information

Gene Name	ELOVL fatty acid elongase 4
Protein Entry	ELOV4_HUMAN
UniProt ID	Q9GZR5
Species	Human

Comments

Comment type	Description
Catalytic Activity	A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2).
Disease	Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM:614457]: A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. {ECO:0000269\|PubMed:22100072}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Stargardt disease 3 (STGD3) [MIM:600110]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The di-lysine motif may confer endoplasmic reticulum localization. {ECO:0000250}.
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. May play a critical role in early brain and skin development. {ECO:0000269\|PubMed:20937905}.
Similarity	Belongs to the ELO family. {ECO:0000305}.
Subcellular Location	Endoplasmic reticulum membrane {ECO:0000269\|PubMed:16036915, ECO:0000269\|PubMed:20937905}; Multi- pass membrane protein {ECO:0000269\|PubMed:16036915, ECO:0000269\|PubMed:20937905}.
Subunit	Oligomer.
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 expression in heart, lung, liver, or leukocates. {ECO:0000269\|PubMed:20937905}.
Web Resource	Name=Mutations of the ELOVL4 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/elovlmut.htm";