Gene details
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FA2H - fatty acid 2-hydroxylase
Function
Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:15337768, PubMed:15863841, PubMed:17355976, PubMed:22517924). FA2H is stereospecific for the production of (R)-2-hydroxy fatty acids (PubMed:22517924). Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier (PubMed:17355976). Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in sebaceous gland, specifically regulating hair follicle homeostasis (By similarity). Involved in the synthesis of sphingolipids of plasma membrane rafts, controlling lipid raft mobility and trafficking of raft-associated proteins (By similarity).
Uniprot BrowserEntrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
---|---|---|---|
79152 | ENSG00000103089 | FA2H | Q7L5A8 |
Gene Regulons
A gene
can be associated with multiple causal flows
as a member of multiple regulons
Regulon | Program | # genes | # regulators | # causal flows |
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