Defective ADA does not deaminate (deoxy)adenosine

Stable Identifier
R-HSA-9734745
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective ADA does not deaminate (deoxy)adenosine
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Normally in humans, adenosine and deoxyadenosine can be deaminated to inosine and deoxyinosine, catalyzed by ADA (adenosine deaminase). In the absence of ADA activity, however, accumulated nucleosides disrupt lymphoid cell function, leading to severe combined immunodeficiency. Here, we have annotated the failure of normal adenosine and deoxyadenosine deamination due to three missense mutant alleles of ADA, identified in patients with severe combined immunodeficiency and shown to encode unstable or catalytically inactive forms of ADA protein (Hirschhorn et al. 1989, 1990).
Literature References
PubMed ID Title Journal Year
2783588 Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency

Hirschhorn, R, Tzall, S, Ellenbogen, A, Orkin, SH

J Clin Invest 1989
2166947 Hot spot mutations in adenosine deaminase deficiency

Hirschhorn, R, Tzall, S, Ellenbogen, A

Proc Natl Acad Sci U S A 1990
Participants
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as an event of
Catalyst Activity

deaminase activity of ADA mutants [cytosol]

Physical Entity
ADA mutants [cytosol] (Homo sapiens)
Activity
deaminase activity (GO:0019239)
Normal reaction
ADA catalyzes the deamination of (deoxy)adenosine (Homo sapiens)
Functional status

Loss of function of ADA mutants [cytosol]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
adenosine deaminase deficiency DOID:5810 ADA
Cross References
Mondo
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-06-18)
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