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)
Triplosensitivity:
Not Yet Evaluated
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)