FA2H, Official Symbol FA2Hprovided by HGNC Official Full Name fatty acid 2-hydroxylaseprovided by HGNC Primary source HGNC:HGNC:21197 See related Ensembl:ENSG00000103089 MIM:611026; AllianceGenome:HGNC:21197 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAAH; FAH1; SCS7; SPG35; FAXDC1 Summary 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. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010] Expression Biased expression in stomach (RPKM 14.4), brain (RPKM 8.1) and 10 other tissues See more Orthologs mouse all