The 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) Global Variome, with Curator vacancy
Total number of public variants reported 28
Unique public DNA variants reported 23
Individuals with public variants 10
Hidden variants 2
Date created May 03, 2013
Date last updated October 22, 2021
Version BCKDHB:211022

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 987
Entrez Gene 594
PubMed articles BCKDHB
OMIM - Gene 248611
OMIM - Diseases MUSD (maple syrup urine disease (MUSD))
Orphanet BCKDHB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003315 6 transcript variant 2 NM_000056.3 NP_000047.1 28


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