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FA2H / FAAH is 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.
Gene Name: | fatty acid 2-hydroxylase |
Synonyms: | FA2H, Fatty acid alpha-hydroxylase, FAXDC1, Fatty acid 2-hydroxylase, SCS7, FAH1, SPG35 |
Target Sequences: | NM_024306 NP_077282.3 Q7L5A8 |
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