DBT gene homepage

General information
Gene symbol DBT
Gene name dihydrolipoamide branched chain transacylase E2
Chromosome 1
Chromosomal band p31
Imprinted Unknown
Genomic reference NG_011852.2
Transcript reference NM_001918.2
Associated with diseases ID, MUSD
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 40
Unique public DNA variants reported 29
Individuals with public variants 107
Hidden variants 6
Date created May 03, 2013
Date last updated March 23, 2020
Version DBT:200323

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 2698
Entrez Gene 1629
PubMed articles DBT
OMIM - Gene 248610
OMIM - Diseases MUSD (maple syrup urine disease (MUSD))

Active transcripts




NCBI ID     

NCBI Protein ID     

00006124 1 dihydrolipoamide branched chain transacylase E2 NM_001918.2 NP_001909.2 40

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2013-2020. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.