DISEASES

Disease-gene associations mined from literature

Literature associating CMPK2 and thiamine-responsive megaloblastic anemia syndrome

CMPK2 [ENSP00000256722]

Cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial; May participate in dUTP and dCTP synthesis in mitochondria. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP; CMP and UMP are poor substrates. May be involved in mtDNA depletion caused by long term treatment with ddC or other pyrimidine analogs. Also displays broad nucleoside diphosphate kinase activity.

Synonyms:  CMPK2,  CMPK2p,  hCMPK2,  I1Z9C7,  Q5EBM0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM