Defective APRT does not convert adenine to AMP

Stable Identifier
R-HSA-9734193
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective APRT does not convert adenine to AMP
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Normally in humans, adenine generated in processes such as polyamine biosynthesisis can be salvaged by conversion to AMP, catalyzed by APRT (adenine phosphoribosyltransferase). In the absence of APRT activity, however, accumulated adenine is instead converted to 2,8-dioxo-adenine. Accumulation of insoluble crystals of 2,8-dioxo-adenine in the kidneys causes the kidney damage that is a major symptom of APRT deficiency in humans (Van Acker et al. 1977; Bollée et al. 2012). Three missense mutant alleles are annotated here (Chen et al. 1991; Hidaka et al. 1988; Sahota et al. 1994); nonsense, insertion-deletion, and splice-site mutations have also been reported (reviewed by Bollée et al. 2012).
Literature References
PubMed ID Title Journal Year
7915931 Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis

Boyadjiev, SA, Tischfield, JA, Chen, J, Sahota, A, Gault, MH

Hum Mol Genet 1994
3343350 Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese

Fujimori, S, Hidaka, Y, Palella, TD, Tarlé, SA, Kamatani, N, Kelley, WN

J Clin Invest 1988
1746557 Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient

Tischfield, JA, Stambrook, PJ, Sahota, A, Chen, J, Scrine, M, Bowman, S, Cui, C, Laxdal, T

Am J Hum Genet 1991
865583 Complete deficiency of adenine phosphoribosyltransferase. Report of a family

Cameron, JS, Van Acker, KJ, Simmonds, HA, Potter, C

N Engl J Med 1977
22700886 Adenine phosphoribosyltransferase deficiency

Daudon, M, Bollée, G, Knebelmann, B, Harambat, J, Ceballos-Picot, I, Bensman, A

Clin J Am Soc Nephrol 2012
Participants
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Catalyst Activity

adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol]

Physical Entity
APRT dimer mutants [cytosol] (Homo sapiens)
Activity
adenine phosphoribosyltransferase activity (GO:0003999)
Normal reaction
APRT catalyzes the conversion of adenine to AMP (Homo sapiens)
Functional status

Loss of function of APRT dimer mutants [cytosol]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
adenine phosphoribosyltransferase deficiency DOID:0060350 APRT deficiency, 2,8-dihydroxyadenine urolithiasis
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-06-15)
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