External Ids for ADA Gene
Previous GeneCards Identifiers for ADA Gene
This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
GeneCards Summary for ADA Gene
ADA (Adenosine Deaminase) is a Protein Coding gene. Diseases associated with ADA include adenosine deaminase deficiency and severe combined immunodeficiency due to ada deficiency. Among its related pathways are Metabolism and Transcription Ligand-dependent activation of the ESR1/SP pathway. GO annotations related to this gene include adenosine deaminase activity and purine nucleoside binding.
UniProtKB/Swiss-Prot for ADA Gene
Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion.
Deaminases are enzymes that catalyze the hydrolysis of C-NH2 bonds in amino compounds, producing ammonia. They are usually named after their substrate; two well known members of this group are adenosine deaminase and cytidine deaminase.