ITPA wt Allele

Preferred Label : ITPA wt Allele;

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

NCIt 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.;

NCI Metathesaurus CUI : CL1920711;

GenBank Accession Number : AF026816;

Details

Origin ID

C201842;

UMLS CUI

C5890937;

OMIM relation
- Inosine triphosphatase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20p13 [NCIt concept]
gene_is_element_in_pathway
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Metal Ion Binding [NCIt concept]
- Nucleotide Biosynthesis Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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