PDHB gene homepage

General information
Gene symbol PDHB
Gene name pyruvate dehydrogenase (lipoamide) beta
Chromosome 3
Chromosomal band p21.1-p14.2
Imprinted Unknown
Genomic reference NG_016860.1
Transcript reference NM_000925.3
Exon/intron information NM_000925.3 exon/intron table
Associated with diseases PDHBD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 9
Unique public DNA variants reported 8
Individuals with public variants 1
Hidden variants 1
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated December 04, 2019
Version PDHB:191204

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_000925.3.
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 http://www.LOVD.nl/PDHB
HGNC 8808
Entrez Gene 5162
PubMed articles PDHB
OMIM - Gene 179060
OMIM - Diseases PDHBD (pyruvate dehydrogenase e1-beta deficiency (PDHBD))
GeneCards PDHB
GeneTests PDHB

Active transcripts




NCBI ID     

NCBI Protein ID     

00015907 3 transcript variant 1 NM_000925.3 NP_000916.2 9

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