| 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) |
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