Pyruvate dehydrogenase phosphatase regulatory subunit deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- PDPR / Pyruvate Dehydrogenase Phosphatase Regulatory Subunit
  16q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyruvate dehydrogenase phosphatase regulatory subunit
Multimer
- Pyruvate dehydrogenase complex
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.1 Disorders of pyruvate metabolism