ITPA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ITPA wild-type allele is located in the vicinity of 20p13 and is approximately 23 kb in length. This allele, which encodes inosine triphosphate pyrophosphatase protein, is involved in the dephosphorylation of non-canonical purine nucleotide triphosphates. Mutation of the gene is associated with inosine triphosphatase deficiency and developmental and epileptic encephalopathy 35.

**Synonyms:** - C20orf37 - DEE35 - HLC14-06-P - ITPase - Inosine Triphosphatase (Nucleoside Triphosphate Pyrophosphatase) Gene - Inosine Triphosphatase wt Allele - Inosine Triphosphate Pyrophosphohydrolase Gene - My049 - NTPase - OK/SW-cl.9 - dJ794I6.3