Sequence in raw or FASTA format:
FA2H fatty acid 2-hydroxylase [Homo sapiens (human)]
| Gene Symbol | FA2H |
| Entrez Gene ID | 79152 |
| Full Name | fatty acid 2-hydroxylase |
| Synonyms | FAAH, FAH1, FAXDC1, FLJ25287, SCS7, SPG35 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
16 16q23 |
| 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. COMPLETENESS: complete on the 3' end. |
| Disorder | MIM: 611026 Leukodystrophy, dysmyelinating, and spastic paraparesis with or |
| mRNA | NM_024306, 291621627 |
| Protein | NP_077282, 205360949 |
| Product | fatty acid 2-hydroxylase |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | FA2H | NP_077282.3 |
| Pan troglodytes (chimpanzee) | FA2H | XP_511106.2 |
| Canis lupus familiaris (dog) | FA2H | XP_853014.1 |
| Bos taurus (cattle) | FA2H | XP_595049.2 |
| Mus musculus (house mouse) | Fa2h | NP_835187.1 |
| Rattus norvegicus (Norway rat) | Fa2h | XP_001073350.1 |
| Gallus gallus (chicken) | FA2H | XP_414053.2 |
| Drosophila melanogaster (fruit fly) | CG30502 | NP_610279.3 |
| Caenorhabditis elegans | C25A1.5 | NP_492678.1 |
| Arabidopsis thaliana (thale cress) | FAH1 | NP_181023.1 |
| Arabidopsis thaliana (thale cress) | FAH2 | NP_193819.1 |
| ID | Name | Evidence |
| GO:0006633 | fatty acid biosynthetic process | IEA |
| GO:0006665 | sphingolipid metabolic process | IEA |
| GO:0006810 | transport | IEA |
| GO:0008219 | cell death | IEA |
| GO:0022900 | electron transport chain | IEA |
Component
| ID | Name | Evidence |
| GO:0005783 | endoplasmic reticulum | IEA |
| GO:0005789 | endoplasmic reticulum membrane | IEA |
| GO:0005792 | microsome | IEA |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0016491 | oxidoreductase activity | IEA |
| GO:0020037 | heme binding | IEA |
| GO:0046872 | metal ion binding | IEA |
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