Disease-gene associations mined from literature

Literature associating ITPA and Noonan syndrome 7

ITPA [ENSP00000369456]

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase); Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.

Synonyms:  ITPA,  Q5NT82,  Q9BY32,  C20orf37,  My049 ...

Linkouts:  STRING  Pharos  UniProt  OMIM