FA2H
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.[5]
Function
This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups.[5]
Clinical significance
Mutations in this gene have been associated with leukodystrophy dysmyelinating with hereditary spastic paraplegia type 35 (SPG35) with or without dystonia[5] as well as fatty acid hydroxylase-associated neurodegeneration.[6] The largest cohort with a detailed phenotypical description and a highly sensitive imaging phenotype ("WHAT"—white matter changes, hypointensity of the globus pallidus, ponto-cerebellar atrophy, and thin corpus callosum) was published in June 2019.[7]
FA2H has been shown to modulate cell differentiation in vitro. FA2H may be a Δ9-THC-regulated gene, as Δ9-THC induces differentiation signal(s) in poorly differentiated MDA-MB-231 cells.[8]
