Defective ADA does not deaminate (deoxy)adenosine

Stable Identifier
R-HSA-9734745
Type
Reaction [transition]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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

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

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

Tzall, S, Hirschhorn, R, Ellenbogen, A

Proc Natl Acad Sci U S A 1990
Participants
Participates
Catalyst Activity

deaminase activity of ADA mutants [cytosol]

Normal reaction
Functional status

Loss of function of ADA mutants [cytosol]

Status
Disease
Name Identifier Synonyms
adenosine deaminase deficiency DOID:5810 ADA
Authored
Reviewed
Created
Cite Us!