| Health / Medical Topics |
PNP wt Allele
Human PNP wild-type allele is located in the vicinity of 14q13.1 and is approximately 8 kb in length. This allele, which encodes purine nucleoside phosphorylase protein, plays a role in the release of a purine from a purine nucleoside. Certain allelic variants of the PNP gene cause nucleoside phosphorylase deficiency, resulting in severe T-cell immunodeficiency with neurologic disorder in children. (NCI Thesaurus)
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