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Gene: FA2H (fatty acid 2-hydroxylase) Homo sapiens
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Symbol: FA2H
Name: fatty acid 2-hydroxylase
Description: Exhibits fatty acid alpha-hydroxylase activity. Involved in ceramide biosynthetic process and establishment of skin barrier. Localizes to the membrane. Implicated in hereditary spastic paraplegia 35.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FAAH; FAH1; fatty acid alpha-hydroxylase; fatty acid hydroxylase domain containing 1; FAXDC1; FLJ25287; SCS7; spastic paraplegia 35 (autosomal recessive); SPG35
Orthologs:
Mus musculus (house mouse) : Fa2h (fatty acid 2-hydroxylase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fa2h (fatty acid 2-hydroxylase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fa2h (fatty acid 2-hydroxylase)
Pan paniscus (bonobo/pygmy chimpanzee) : FA2H (fatty acid 2-hydroxylase)
Canis lupus familiaris (dog) : FA2H (fatty acid 2-hydroxylase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fa2h (fatty acid 2-hydroxylase)
Sus scrofa (pig) : FA2H (fatty acid 2-hydroxylase)
Chlorocebus sabaeus (green monkey) : FA2H (fatty acid 2-hydroxylase)
Heterocephalus glaber (naked mole-rat) : Fa2h (fatty acid 2-hydroxylase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1674,712,955 - 74,774,831 (-)Ensembl
GRCh381674,712,955 - 74,774,831 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371674,746,853 - 74,808,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,304,359 - 73,366,224 (-)NCBINCBI36hg18NCBI36
Build 341673,304,358 - 73,366,222NCBI
Celera1659,039,540 - 59,101,413 (-)NCBI
Cytogenetic Map16q23.1NCBI
HuRef1660,496,759 - 60,558,638 (-)NCBIHuRef
CHM1_11676,159,142 - 76,220,992 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on FA2H
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1318772
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.