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 Paraparesis. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (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.