靶标:
APRT
产品别名:
AMP; APRTD; APRT; adenine phosphoribosyltransferase; adenine phosphoribosyltransferase; adenine phosphoribosyltransferase; AMP diphosphorylase; AMP pyrophosphorylase; transphosphoribosidase; 腺嘌呤磷酸核糖转移酶; 腺嘌呤磷酸核糖转移酶(APRT);
背景信息:
Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16. It belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene.