ADA, Official Symbol ADAprovided by HGNC Official Full Name adenosine deaminaseprovided by HGNC Primary source HGNC:HGNC:186 See related Ensembl:ENSG00000196839 MIM:608958; AllianceGenome:HGNC:186 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADA1 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] Expression Biased expression in duodenum (RPKM 234.2) and lymph node (RPKM 16.6) See more Orthologs mouse all