Search for a gene
PDP1 - pyruvate dehydrogenase phosphatase catalytic subunit 1
- Synonym(s) : PDH, PDP, PPM2A, protein phosphatase, Mg2+/Mn2+ dependent 2A
- Previous symbols and names : PPM2C, protein phosphatase 2C, magnesium-dependent, catalytic subunit
- Type : gene with protein product
- Chromosomal location : 8q22.1
- OMIM: 605993
- HGNC: 9279
- UniProtKB: Q9P0J1
- Genatlas: PDP1
- GenCC: PDP1
- Ensembl: ENSG00000164951
- IUPHAR-DB: -
- Reactome: Q9P0J1
- LOVD: PDP1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Pyruvate dehydrogenase phosphatase deficiency
ORPHA:79246 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.