FA2H report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0030148Biological processsphingolipid biosynthetic process
GO_0061436Biological processestablishment of skin barrier
GO_0032286Biological processcentral nervous system myelin maintenance
GO_1904002Biological processregulation of sebum secreting cell proliferation
GO_0006631Biological processfatty acid metabolic process
GO_0046513Biological processceramide biosynthetic process
GO_0044857Biological processplasma membrane raft organization
GO_0006633Biological processfatty acid biosynthetic process
GO_0030258Biological processlipid modification
GO_0032287Biological processperipheral nervous system myelin maintenance
GO_0006682Biological processgalactosylceramide biosynthetic process
GO_0042634Biological processregulation of hair cycle
GO_1904697Biological processregulation of acinar cell proliferation
GO_0006679Biological processglucosylceramide biosynthetic process
GO_0001949Biological processsebaceous gland cell differentiation
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0005783Cellular componentendoplasmic reticulum
GO_0080132Molecular functionfatty acid alpha-hydroxylase activity
GO_0005506Molecular functioniron ion binding
GO_0020037Molecular functionheme binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameFA2H
Protein nameFatty acid 2-hydroxylase
Fatty acid 2-hydroxylase (EC 1.14.18.-) (Fatty acid alpha-hydroxylase) (Fatty acid hydroxylase domain-containing protein 1)
SynonymsFAAH
FAXDC1
DescriptionFUNCTION: 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 . FA2H is stereospecific for the production of (R)-2-hydroxy fatty acids . 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 . 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). .

AccessionsJ3QS89
ENST00000219368.8 [Q7L5A8-1]
ENST00000567683.5
H3BP32
Q7L5A8
ENST00000569949.1
A0A087WVM8
ENST00000618933.1