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FA2H fatty acid 2-hydroxylase [ Homo sapiens (human) ]

Gene ID: 79152, updated on 21-Oct-2014
Official Symbol
FA2Hprovided by HGNC
Official Full Name
fatty acid 2-hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:21197
See related
Ensembl:ENSG00000103089; HPRD:16873; MIM:611026; Vega:OTTHUMG00000137603
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAAH; FAH1; SCS7; SPG35; FAXDC1
Summary
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]
See FA2H in Epigenomics, MapViewer
Location:
16q23
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (74712955..74774831, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (74746853..74808729, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene thymopoietin pseudogene 2 (functional) Neighboring gene mixed lineage kinase domain-like Neighboring gene WD repeat domain 59 Neighboring gene zinc and ring finger 1, E3 ubiquitin protein ligase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25287

Gene Ontology Provided by GOA

Function Evidence Code Pubs
fatty acid alpha-hydroxylase activity IEA
Inferred from Electronic Annotation
more info
 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell death IEA
Inferred from Electronic Annotation
more info
 
central nervous system myelin maintenance IEA
Inferred from Electronic Annotation
more info
 
fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
lipid modification IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system myelin maintenance IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of hair cycle IEA
Inferred from Electronic Annotation
more info
 
sebaceous gland cell differentiation IEA
Inferred from Electronic Annotation
more info
 
sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
fatty acid 2-hydroxylase
Names
fatty acid 2-hydroxylase
fatty acid alpha-hydroxylase
fatty acid hydroxylase domain containing 1
spastic paraplegia 35 (autosomal recessive)
NP_077282.3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017070.1 

    Range
    5001..66877
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024306.4NP_077282.3  fatty acid 2-hydroxylase

    See proteins identical to NP_077282.3

    Status: REVIEWED

    Source sequence(s)
    AA857184, BC017049, DA890369
    Consensus CDS
    CCDS10911.1
    UniProtKB/Swiss-Prot
    Q7L5A8
    Related
    ENSP00000219368, OTTHUMP00000174940, ENST00000219368, OTTHUMT00000269015
    Conserved Domains (3) summary
    COG3000
    Location:210367
    ERG3; Sterol desaturase [Lipid metabolism]
    pfam00173
    Location:1585
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
    cl01132
    Location:124366
    FA_hydroxylase; Fatty acid hydroxylase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    74712955..74774831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    60496759..60558638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    76159142..76220992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)