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
Exon/intron information NM_000709.3 exon/intron table
Associated with diseases ID, MUSD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 48
Unique public DNA variants reported 39
Individuals with public variants 3
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated October 11, 2018
Version BCKDHA:181011

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000709.3.
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
Homepage URL https://www.LOVD.nl/BCKDHA
External URL Orphanet
HGNC 986
Entrez Gene 593
PubMed articles BCKDHA
OMIM - Gene 608348
OMIM - Diseases MUSD (maple syrup urine disease (MUSD))
GeneCards BCKDHA
GeneTests BCKDHA

Active transcripts




NCBI ID     

NCBI Protein ID     

00000200 19 branched chain keto acid dehydrogenase E1, alpha polypeptide, transcript variant 1 NM_000709.3 NP_000700.1 48

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