ELOVL5 Lysate – Tissue Lysate

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]

ELOVL5: Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. Belongs to the ELO family.

Protein type: Lipid Metabolism - unsaturated fatty acid biosynthesis; EC 2.3.1.199; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6p12.1

Cellular Component: endoplasmic reticulum membrane; membrane; cell soma; endoplasmic reticulum; dendrite; integral to membrane

Molecular Function: protein binding; fatty acid elongase activity

Biological Process: unsaturated fatty acid metabolic process; very-long-chain fatty acid biosynthetic process; linoleic acid metabolic process; unsaturated fatty acid biosynthetic process; triacylglycerol biosynthetic process; cellular lipid metabolic process

Disease: Spinocerebellar Ataxia 38