View BCKDHB gene homepage

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 NG_009775.1
Transcript reference NM_000056.3
Associated with diseases ID, MUSD
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
HGNC 987
Entrez Gene 594
PubMed articles BCKDHB
OMIM - Gene 248611
OMIM - Diseases MUSD (maple syrup urine disease (MUSD))

Active transcripts




NCBI ID     

NCBI Protein ID     

00003315 6 transcript variant 2 NM_000056.3 NP_000047.1 0