View PDP1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PDP1
Gene name pyruvate dehyrogenase phosphatase catalytic subunit 1
Chromosome 8
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_001161778.1, NM_001161779.1, NM_001161780.1, NM_001161781.1, NM_018444.3
Associated with diseases PDHPD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
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 9279
Entrez Gene 54704
PubMed articles PDP1
OMIM - Gene 605993
OMIM - Diseases PDHPD (PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY)
HGMD PDP1
GeneCards PDP1
GeneTests PDP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000255 8 transcript variant 5 NM_018444.3 NP_060914.2 2
00000256 8 transcript variant 3 NM_001161780.1 NP_001155252.1 2
00000257 8 transcript variant 2 NM_001161779.1 NP_001155251.1 2
00000258 8 transcript variant 4 NM_001161781.1 NP_001155253.1 2
00000259 8 transcript variant 1 NM_001161778.1 NP_001155250.1 2


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium