FA2H

Also known as FAAH, FAH1, FAXDC1, SCS7, SPG35, fatty acid 2-hydroxylase

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.

In the Vinony graph

Within Vinony's link graph, FA2H is referenced by 4 other articles, and connects out to PubMed, human chromosome 16 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 16.

Its subject is documented across 6 Wikipedia language editions.

Gene data

FA2H

Name: fatty acid 2-hydroxylase
Type: protein-coding
Position: 74,712,955–74,774,837 (−)
Aliases: FAAH, FAH1, FAXDC1, SCS7, SPG35
Ensembl: ENSG00000103089
RefSeq RNA: NM_024306.5, XM_011523317.4, XM_011523319.3, XM_054313906.1, XM_054313907.1
RefSeq protein: NP_077282.3, XP_011521619.1, XP_011521621.1, XP_054169881.1, XP_054169882.1

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].

Pathways

Metabolism Sphingolipid de novo biosynthesis Sphingolipid metabolism Metabolism of lipids Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway

via MyGene.info

Gene · Ensembl

fatty acid 2-hydroxylase

Symbol: FA2H
Biotype: Protein coding
Organism: Homo sapiens
Location: 16:74,712,955-74,774,837
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 8 more facts

HomoloGene ID: 56284
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/79152
genomic end: 74808729
genomic start: 74746853
chromosome: human chromosome 16
cytogenetic location: 16q23.1
expressed in: substantia nigra

Sources (6)

via Wikidata · CC0

~1 min read

Encyclopedic overview

4 sections

Contents

Function
Clinical significance
References
Further reading

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.

== Function == 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.

Excerpted from Wikipedia’s “FA2H” article, available under the CC BY-SA 4.0 licence.