PNP wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - NP - Nucleoside Phosphorylase Gene - PRO1837 - PUNP - Purine Nucleoside Phosphorylase wt Allele