Disease-gene associations mined from literature

Literature associating CTPS1 and immunodeficiency 24

CTPS1 [ENSP00000361704]

UTP--ammonia ligase 1; This enzyme is involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Catalyzes the ATP- dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen. This enzyme and its product, CTP, play a crucial role in the proliferation of activated lymphocytes and therefore in immunity; Glutamine amidotransferase like class 1 domain containing

Synonyms:  CTPS1,  CTPS1p,  hCTPS1,  B4DR64,  B4E1E0 ...

Linkouts:  STRING  Pharos  UniProt