FA2H
Sign in to saveAlso known as FAAH, FAH1, FAXDC1, SCS7, SPG35, fatty acid 2-hydroxylase
gene umano
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].
Gene Ontology
Biological process
Molecular function
Pathways
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