X-linked Charcot-Marie-Tooth type 6

(CMTX6)

Synonym(s)
- Pyruvate dehydrogenase kinase isoenzyme 3 gain-of-function variant
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PDK3 / Pyruvate Dehydrogenase Kinase 3
  Xp22.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyruvate dehydrogenase kinase 3
Multimer
- Pyruvate dehydrogenase complex
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.1 Disorders of pyruvate metabolism