gene: ADA
| id | 100 |
|---|---|
| symbol | ADA |
| organism | Homo sapiens |
| full name | adenosine deaminase |
| summary | This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019] |
| variant-disease |
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) AND Severe combined immunodeficiency due to ADA deficiency NM_000022.4(ADA):c.446G>A (p.Arg149Gln) AND Partial adenosine deaminase deficiency NM_000022.4(ADA):c.646G>A (p.Gly216Arg) AND Severe combined immunodeficiency due to ADA deficiency NM_000022.4(ADA):c.466C>T (p.Arg156Cys) AND Severe combined immunodeficiency due to ADA deficiency ADA, 7-BP INS, IVS8AS AND Severe combined immunodeficiency due to ADA deficiency ... 175 more |
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