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Literature summary for 2.4.2.7 extracted from

  • Di Pietro, V.; Perruzza, I.; Amorini, A.M.; Balducci, A.; Ceccarelli, L.; Lazzarino, G.; Barsotti, P.; Giardina, B.; Tavazzi, B.
    Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure (2007), Clin. Biochem., 40, 73-80.
    View publication on PubMed
Search for more literature for 2.4.2.7

Protein Variants

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens P07741
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
APRT
-
 Homo sapiens