Adenine phosphoribosyltransferase

Adenine phosphoribosyltransferase is an is_associated_with::enzyme that in humans is encoded by the APRT is_associated_with::gene.

Function
APRTase is an is_associated_with::enzyme involved in the is_associated_with::purine is_associated_with::nucleotide salvage pathway. It functions as a catalyst in the reaction between is_associated_with::adenine and is_associated_with::phosphoribosyl pyrophosphate (PRPP) to form AMP.

APRT is functionally related to is_associated_with::hypoxanthine-guanine phosphoribosyltransferase (HPRT).

Pathology
Deficiency purines APRT in is_associated_with::human beings may lead to is_associated_with::kidney stones formed of is_associated_with::adenine and is_associated_with::salts.

2,8-Dihydroxy-adenine urolithiasis is also known as "adenine phosphoribosyltransferase deficiency".

Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic disorder that often causes kidney stones, and in some patients kidney failure. More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down is_associated_with::purines. This may result in the accumulation 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. 2,8-DHA is poorly soluble in the urine leads to the formation of kidney stones and kidney injury.

Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color.