Tbio FA2H Fatty acid 2-hydroxylase

Protein Summary

Description

Catalyzes stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:17355976, PubMed:22517924, PubMed:15863841, PubMed:15337768). 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). 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]

Uniprot Accession IDs

• Q7L5A8
• B7Z8T6
• O75213
• Q96DK1
• Q9H1A5

Gene Name

• FA2H

Ensembl ID

• ENST00000219368
• ENSP00000219368
• ENSG00000103089

Symbol

• FAAH
• FAAH
• FAH1
• SCS7
• SPG35
• FAXDC1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
hub protein	0.88
virus perturbation	0.76
histone modification site profile	0.67
cellular component	0.62
protein domain	0.58

Protein Classes

PANTHER Classes

Protein / Oxidoreductase / Hydroxylase / Fatty Acid 2-hydroxylase

DTO Classes

Protein / Enzyme / Oxidoreductase / Hydroxylase / Fatty Acid 2-hydroxylase

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 259.02   (req: < 5)

Gene RIFs: 27   (req: <= 3)

Antibodies: 186   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 259.02   (req: >= 5)

Gene RIFs: 27   (req: > 3)

Antibodies: 186   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0