The BCKDHA gene homepage

General information
Gene symbol BCKDHA
Gene name branched chain keto acid dehydrogenase E1, alpha polypeptide
Chromosome 19
Chromosomal band q13.1-q13.2
Imprinted Unknown
Genomic reference NG_013004.1
Transcript reference NM_000709.3, NM_001164783.1
Associated with diseases ID, MUSD
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 357
Unique public DNA variants reported 28
Individuals with public variants 35
Hidden variants 34
Date created November 30, -0001
Date last updated September 28, 2016
Version BCKDHA:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:986
Entrez Gene 593
PubMed articles BCKDHA
OMIM - Gene 608348
OMIM - Diseases MUSD (maple syrup urine disease (MUSD))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010227 19 transcript variant 1 NM_000709.3 NP_000700.1 357
00010228 19 transcript variant 2 NM_001164783.1 NP_001158255.1 357