Protein Variants | Comment | Organism |
---|---|---|
additional information | determination and phenotype analysis of a naturally occuring mutation in the APRT gene by a homozygous 254 bp deletion-8 bp insertion mutation in exon 3, the patients shows sever renal failure, with pathological presence of adenine in both biological fluids, urinary stone excretion, and no enzyme activityin the hemolysate, overview | Homo sapiens |
additional information | heterozygotes for the 254 bp deletion-8 bp insertion of the APRT gene show a 69% lower APRT enzymatic activity | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
5-phospho-alpha-D-ribosyl-1-diphosphate + adenine | Homo sapiens | enzyme deficiency leads to severe renal failure, overview | AMP + diphosphate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Homo sapiens | P07741 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
5-phospho-alpha-D-ribosyl-1-diphosphate + adenine | - |
Homo sapiens | AMP + diphosphate | - |
? | |
5-phospho-alpha-D-ribosyl-1-diphosphate + adenine | enzyme deficiency leads to severe renal failure, overview | Homo sapiens | AMP + diphosphate | - |
? | |
adenine + 5-phospho-alpha-D-ribose 1-diphosphate | - |
Homo sapiens | AMP + diphosphate | - |
r |
Synonyms | Comment | Organism |
---|---|---|
APRT | - |
Homo sapiens |