| Adenine Phosphoribosyltransferase | OKDB#: 503 |
| Symbols: | APRT | Species: | rat | ||
| Synonyms: | 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED| DHA-UROLITHIASIS, INCLUDED| APRT DEFICIENCY, INCLUDED| | Locus: | 16q24.3 in Homo sapiens |
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| General Comment |
Adenine phosphoribosyltransferase (APRT) is involved in purine metabolism. Its deficiency in humans is an autosomal recessive syndrome characterized by the
urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney stones
or renal failure.Human adenine phosphoribosyltransferase has sequence homology with xanthine-guanine
phosphoribosyltransferase from Escherichia coli.
NCBI 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. |
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| General function | Metabolism | ||||
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| Cellular localization | Cytoplasmic | ||||
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| Ovarian function | Unknown | ||||
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| Ovarian localization | |||||
| Comment | This gene was found in a rat ovarian cDNA library (Unigene) | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
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| created: | Jan. 31, 2000, midnight | by: |
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home page: |
| last update: | Aug. 13, 2001, 11:54 a.m. | by: | hsueh email: |
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