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	64
Unique public DNA variants reported	59
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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000789	2	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	NM_000183.2	NP_000174.1	64

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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium