HADHB gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol HADHB
Gene name hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
Chromosome 2
Chromosomal band p23
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_000183.2
Associated with diseases 609015
Citation reference(s) -
Curators (0) -
Total number of public variants reported 49
Unique public DNA variants reported 44
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 4803
Entrez Gene 3032
PubMed articles HADHB
OMIM - Gene 143450
OMIM - Diseases 609015 (TRIFUNCTIONAL PROTEIN DEFICIENCY)
HGMD HADHB
GeneCards HADHB
GeneTests HADHB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000789 2 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit NM_000183.2 NP_000174.1 49


Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium