APRT Chromosome 16
Adenine phosphoribosyltransferase
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What This Gene Does
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]
Associated Conditions (5)
Adenine phosphoribosyltransferase deficiency
APRT-related disorder
APRT deficiency
Japanese type
See cases
Key Variants
RS142472789
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS201944035
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS35095508
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS372253865
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS377050219
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS745594160
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS752977102
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS767177754
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS768425517
Conflicting classifications of pathogenicity
Adenine phosphoribosyltransferase deficiency, APRT-related disorder, Adenine phosphoribosyltransferase deficiency
Health Risk
RS1186881962
Likely pathogenic
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS1244097151
Likely pathogenic
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
RS1344826245
Likely pathogenic
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1909145695 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS1909147057 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS2142952273 | Health Risk | Pathogenic | — |
| RS2142952361 | Health Risk | Pathogenic | — |
| RS281860263 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS281860265 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS281860266 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS28999113 | Health Risk | Pathogenic | APRT deficiency, Japanese type, Adenine phosphoribosyltransferase deficiency |
| RS3169258 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS369681854 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS387906584 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS755380873 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS761430319 | Health Risk | Pathogenic | — |
| RS764321075 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS766646831 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS775204282 | Health Risk | Pathogenic | — |
| RS776948275 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS918734933 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS930107496 | Health Risk | Pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS121912681 | Health Risk | Pathogenic/Likely pathogenic | Adenine phosphoribosyltransferase deficiency, See cases, Adenine phosphoribosyltransferase deficiency |
| RS1449730265 | Health Risk | Pathogenic/Likely pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS761838152 | Health Risk | Pathogenic/Likely pathogenic | Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |