FA2H gene homepage

General information
Gene symbol FA2H
Gene name fatty acid 2-hydroxylase
Chromosome 16
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_017070.1
Transcript reference NM_024306.4
Exon/intron information NM_024306.4 exon/intron table
Associated with diseases SPG-35
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 35
Unique public DNA variants reported 21
Individuals with public variants 1
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 01, 2015
Version FA2H:151201

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_024306.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/FA2H
HGNC 21197
Entrez Gene 79152
PubMed articles FA2H
OMIM - Gene 611026
OMIM - Diseases SPG-35 (paraplegia, spastic, autosomal recessive, type 35 (SPG-35))
GeneCards FA2H
GeneTests FA2H

Active transcripts




NCBI ID     

NCBI Protein ID     

00007352 16 fatty acid 2-hydroxylase NM_024306.4 NP_077282.3 35

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