Aliases for ELOVL4 Gene
External Ids for ELOVL4 Gene
Previous HGNC Symbols for ELOVL4 Gene
Previous GeneCards Identifiers for ELOVL4 Gene
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]
GeneCards Summary for ELOVL4 Gene
ELOVL4 (ELOVL Fatty Acid Elongase 4) is a Protein Coding gene. Diseases associated with ELOVL4 include congenital ichthyosis - intellectual disability - spastic quadriplegia and ichthyosis, spastic qudraplegia and mental retardation. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transferase activity and G-protein coupled photoreceptor activity. An important paralog of this gene is ELOVL7.
UniProtKB/Swiss-Prot for ELOVL4 Gene
Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that specifically elongates C24:0 and C26:0 acyl-CoAs. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.