Aliases for ELOVL5 Gene
External Ids for ELOVL5 Gene
Previous HGNC Symbols for ELOVL5 Gene
Previous GeneCards Identifiers for ELOVL5 Gene
This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
GeneCards Summary for ELOVL5 Gene
ELOVL5 (ELOVL Fatty Acid Elongase 5) is a Protein Coding gene. Diseases associated with ELOVL5 include spinocerebellar ataxia 38 and low tension glaucoma. 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 fatty acid elongase activity. An important paralog of this gene is ELOVL7.
UniProtKB/Swiss-Prot for ELOVL5 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 acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate to the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.