ELOVL4 is a member of a large family of fatty acid elongases (ELO) that catalyzes the rate-limiting step in the elongation of long chain fatty acids (LC-FA) into very long-chain saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids, collectively known as VLC-FA (very long chain fatty acid).

2024年12月24日 · ELOVL4 (ELOVL Fatty Acid Elongase 4) is a Protein Coding gene. Diseases associated with ELOVL4 include Spinocerebellar Ataxia 34 and Stargardt Disease 3. Among its related pathways are Fatty acyl-CoA biosynthesis and Metabolism.

2019年3月1日 · In this review, we critically compare and contrast the various animal model and case studies involving ELOVL4 deficiency via either mutation or deletion, and the resulting consequences on neuronal health and function in both the retina and central nervous system. 1.

ELOngation of Very Long chain fatty acids-4 (ELOVL4) is an elongase responsible for the biosynthesis of very long chain (VLC, ≥C28) saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids in brain, retina, skin, Meibomian glands, and testes.

Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] results from single allelic mutations in the elongation of very-long–chain fatty acids-like 4 (ELOVL4), whereas recessive mutations lead to skin and brain dysfunction.

2023年11月20日 · ELOVL4 regulates the synthesis of very long-chain (≥ C28) polyunsaturated fatty acids, including n-3 VLC-PUFAs, and has been implicated in neuroprotective signaling for maintaining photoreceptor cell integrity .

The ELOVL4 gene provides instructions for making a protein that is found primarily in the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, the ELOVL4 protein is produced in the retina's light-sensing cells (photoreceptors).

ELOVL4 is identified as the causative gene for erythrokeratodermia variabilis and spinocerebellar ataxia in a French-Canadian family. A novel homozygous nonsense mutation in ELOVL4 cuases a neuro-ichthyotic disorder with variable expressivity.

2019年9月20日 · ELOVL4 is the only family member that catalyzes production of Very Long Chain Saturated Fatty Acids (VLC-SFA) and Very Long Chain Polyunsaturated Fatty Acids (VLC-PUFA) with chain lengths ≥28 carbons.

This novel candidate gene, ELOVL4, encodes a putative protein of 314 amino acids with approximately 35% amino acid identity to members of the yeast ELO family. The authors identified a mouse ortholog of human ELOVL4 (92% amino acid identity) after extending a …