APRT wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human APRT wild-type allele is located within 16q24 and is approximately 2 kb in length. This allele, which encodes adenine phosphoribosyltransferase protein, is involved in an AMP purine salvage reaction that recycles adenine into nucleic acids by formation of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate. Defects in the APRT gene cause APRT deficiency, a disorder also known as 2,8-dihydroxyadenine urolithiasis.

**Synonyms:** - AMP - Adenine Phosphoribosyltransferase wt Allele