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




NCBI ID     

NCBI Protein ID     

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

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.