| Protein Name | adenine phosphoribosyltransferase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 353 |
| Gene Symbol | APRT |
| UniProt | P07741 (APT_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
191
Total Number of Articles : 219 |
Description |
adenine phosphoribosyltransferase |
| Gene Summary |
Adenine phosphoribosyltransferase 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. [provided by RefSeq, Jul 2008] |
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