Dec 24, 2024 · 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.

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).

Mar 1, 2019 · 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.

Nov 20, 2023 · 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 .

Using cell-based and cell-free microsome assays, we found that the truncated protein lacked innate condensation activity. Coexpression of different forms of wild-type and mutant ELOVL4 revealed a large dominant-negative effect of mutant protein on ELOVL4 localization and enzymatic activity, resulting in reduced VLC-PUFA synthesis.

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. Fascinatingly, different mutations in this gene hav …

Mar 1, 2025 · ELOVL4 is the most frequently mutated gene in the elongase complex, associated with both AD and AR disorders (Table 3). ELOVL4 is widely expressed in CNS neurons, where it is required for the synthesis of VLCFAs and ULCFAs (mainly SFAs) in a cell-specific pattern.

该基因编码一种膜结合蛋白，它是 ELO 家族的一员，参与脂肪酸生物合成的蛋白质。 与视网膜感光细胞中编码蛋白的表达一致，该基因的突变和小缺失与 Stargardt 样黄斑营养不良 (STGD3) 和常染色体显性 Stargardt 样黄斑营养不良 (ADMD) 有关，也称为常染色体显性萎缩性黄斑变性。 [RefSeq 提供，2008 年 7 月] This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids.

Sep 20, 2019 · ELOVL4 and its VLC-SFA and VLC-PUFA products are emerging as important regulators of synaptic signaling and neuronal survival in the central nervous system (CNS). Distinct sets of mutations in ELOVL4 cause three different neurological diseases in humans.

Numerous investigations have revealed that ELOVL4 is essential for the synthesis of fatty acids, and it is generally accepted that this enzyme’s purpose is to extend C20 fatty acids to longer-chain fatty acids, even up to C36. Scatophagus argus ELOVL4 can, however