Fa2h
Gene Detail

Symbol Name ID

Fa2h fatty acid 2-hydroxylase MGI:2443327

Synonyms

Faxdc1, G630055L08Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 8

57.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr8:111345135-111393824 bp, - strand From VEGA annotation of GRCm38   48690 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:56284  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: inositolphosphorylceramide-B hydroxylase
Gene Tree: Fa2h

Human homologs

Human Homolog		FA2H, fatty acid 2-hydroxylase
NCBI Gene ID		79152
neXtProt AC		NX_Q7L5A8
Human Synonyms		FAAH, FAH1, FAXDC1, SCS7, SPG35
Human Chr (Location)		16q23; chr16:74746853-74808729 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human FA2H

Alleles and phenotypes

All alleles(7) : Targeted(7)
 

Mice homozygous for disruption of this marker experience late onset axon and myelin degeneration.

 
Human Diseases Modeled Using Mouse Fa2h (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (27 annotations)

Process	central nervous system myelin maintenance, electron transport chain, ...
Component	endoplasmic reticulum, integral to membrane, ...
Function	fatty acid alpha-hydroxylase activity, heme binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
cDNA source data(33)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(33) cDNA(33)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000027478 (Evidence)
Ensembl Gene Model	ENSMUSG00000033579 (Evidence)
Entrez Gene	338521 (Evidence)
UniGene	41083
DFCI	TC1580906, TC1616840, TC1620257
DoTS	DT.101717793, DT.110860606, DT.482229, DT.91290696
NIA Mouse Gene Index	U030263
EC	1.-.-.-
Consensus CDS Project	CCDS22674.1
International Mouse Knockout Project Status	Fa2h

Sequences

Length	Strain/Species
genomic	OTTMUSG00000027478	VEGA Gene Model | MGI Sequence Detail	48690	C57BL/6J
transcript	OTTMUST00000068006	VEGA | MGI Sequence Detail	2492	Not Applicable
polypeptide	OTTMUSP00000034302	VEGA | MGI Sequence Detail	372	Not Applicable

All sequences(38) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(113 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001199	Cytochrome b5
InterPro	IPR018506	Cytochrome b5, heme-binding site
InterPro	IPR006694	Fatty acid hydroxylase
InterPro	IPR014430	Inositolphosphorylceramide-B hydroxylase
Protein Ontology	PR:000007304	fatty acid 2-hydroxylase

References

(Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:175386 Maier H, et al., Normal fur development and sebum production depends on fatty acid 2-hydroxylase expression in sebaceous glands. J Biol Chem. 2011 Jul 22;286(29):25922-34
All references(32)