PDHB gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PDHB
Gene name pyruvate dehydrogenase (lipoamide) beta
Chromosome 3
Chromosomal band p21.1-p14.2
Imprinted Unknown
Genomic reference NC_000003.11
Transcript reference NM_000925.3, NM_001173468.1, NR_033384.1
Associated with diseases PDHBD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 6
Unique public DNA variants reported 4
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
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 8808
Entrez Gene 5162
PubMed articles PDHB
OMIM - Gene 179060
OMIM - Diseases PDHBD (PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY)
HGMD PDHB
GeneCards PDHB
GeneTests PDHB


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000249 3 transcript variant 2 NM_001173468.1 NP_001166939.1 6
00000250 3 transcript variant 1 NM_000925.3 NP_000916.2 6
00000251 3 transcript variant 3 NR_033384.1 - 6


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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