LMPD Database

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LMP006755

UniProt Annotations

Entry Information
Gene NameELOVL fatty acid elongase 4
Protein EntryELOV4_HUMAN
UniProt IDQ9GZR5
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityA very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2).
DiseaseIchthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM
DiseaseStargardt disease 3 (STGD3) [MIM
DomainThe di-lysine motif may confer endoplasmic reticulum localization.
FunctionCondensing 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.
SimilarityBelongs to the ELO family.
Subcellular LocationEndoplasmic reticulum membrane ; Multi- pass membrane protein {ECO
SubunitOligomer.
Tissue SpecificityExpressed 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.
Web ResourceName=Mutations of the ELOVL4 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/elovlmut.htm";