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.

Gene data

FA2H

Name: fatty acid 2-hydroxylase
Type: protein-coding
Aliases: FAAH, FAH1, FAXDC1, SCS7, SPG35

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].

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

Show 5 more facts

HomoloGene ID: 56284
exact match: identifiers.org/ncbigene/79152
genomic end: 74808729
genomic start: 74746853
cytogenetic location: 16q23.1

Sources (6)

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Article

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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.