DISEASES

Disease-gene associations mined from literature

Literature associating CTPS2 and nemaline myopathy 7

CTPS2 [ENSP00000401264]

CTP synthase 2; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides.

Synonyms:  CTPS2,  CTPS2p,  hCTPS2,  A0A024RC00,  H0Y5S6 ...

Linkouts:  STRING  Pharos  UniProt