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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for FA2H (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID79152
Official gene symbolFA2H
Full namefatty acid 2-hydroxylase
Aliases,FAAH,FAH1,FAXDC1,FLJ25287,SCS7,
Gene summaryThis 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.
LocationChromosome: 16   Locus: 16q23
Gene position74808729 - 74746853  Map Viewer
Gene orientationminus
Gene size61877 bp
Gene sequence
OMIM ID612319