Mitochondrial UMP-CMP kinase 2 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- CMPK2 / Cytidine/Uridine Monophosphate Kinase 2
  2p25.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cytidine/Uridine Monophosphate Kinase 2
Disease group(s)
- 9.1 Disorders of mitochondrial nucleotide pool maintenance