Gene Symbol | FA2H |
Entrez Gene ID | 79152 |
Full Name | fatty acid 2-hydroxylase |
Synonyms | FAAH,FAH1,FAXDC1,SCS7,SPG35 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 35, autosomal recessive, 612319 (3) |