View BCKDHB gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol BCKDHB
Gene name branched chain keto acid dehydrogenase E1, beta polypeptide
Chromosome 6
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NC_000006.11
Transcript reference NM_000056.3, NM_183050.2
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 12, 2013

Links to other resources
HGNC 987
Entrez Gene 594
PubMed articles BCKDHB
OMIM - Gene 248611
HGMD BCKDHB
GeneCards BCKDHB
GeneTests BCKDHB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000563 6 transcript variant 1 NM_183050.2 NP_898871.1 0
00000564 6 transcript variant 2 NM_000056.3 NP_000047.1 0


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