PDP1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PDP1 (HGNC:9279) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
pyruvate dehydrogenase phosphatase catalytic subunit 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PPM2C
Alias symbols
PDP, PDH, PPM2A
%HI
16.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.94(Read more about gnomAD pLI score)
LOEUF
0.53(Read more about gnomAD LOEUF score)
Cytoband
8q22.1
Genomic Coordinates
GRCh37/hg19: chr8:94929151-94938296 NCBI Ensembl UCSC
GRCh38/hg38: chr8:93916923-93926068 NCBI Ensembl UCSC
MANE Select Transcript
NM_018444.4 ENST00000297598.5 (Read more about MANE Select)
Function
Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA. {ECO:0000269|PubMed:15554715, ECO:0000305|PubMed:15855260}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18686
ClinGen Curation ID:
CCID:007635
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • pyruvate dehydrogenase phosphatase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)