Entrez gene ID | | 79152 |
Official gene symbol | | FA2H |
Full name | | fatty acid 2-hydroxylase |
Aliases | | ,FAAH,FAH1,FAXDC1,FLJ25287,SCS7, |
Gene 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. |
Location | | Chromosome: 16 Locus: 16q23 |
Gene position | | 74808729 - 74746853 Map Viewer |
Gene orientation | | minus |
Gene size | | 61877 bp |
Gene sequence |
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OMIM ID | | 612319 |
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