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Defective ADA disrupts (deoxy)adenosine deamination

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-9734735

PubChem

R-HSA-9734735

Description

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 (Hirschhorn et al. 1989, 1990).

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SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P00813	Adenosine deaminase	ADA ADA1	view

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