Aliases for FA2H Gene
External Ids for FA2H Gene
Previous HGNC Symbols for FA2H Gene
Previous GeneCards Identifiers for FA2H Gene
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]
GeneCards Summary for FA2H Gene
FA2H (Fatty Acid 2-Hydroxylase) is a Protein Coding gene. Diseases associated with FA2H include Spastic Paraplegia 35, Autosomal Recessive and Spastic Paraplegia 35. Among its related pathways are Metabolism and fatty acid alpha-oxidation III. GO annotations related to this gene include oxidoreductase activity and heme binding.
UniProtKB/Swiss-Prot for FA2H Gene
Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.