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Gene : ADA Homo sapiens

Name  ? adenosine deaminase Cytological Location  20q13.12
Brief Description  adenosine deaminase
Description  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]
  • synonyms:
  • NM_000022,
  • uc002xmj.4,
  • ADA,
  • OTTHUMG00000033081,
  • X02994,
  • HGNC:186
  • identifiers:
  • 100,
  • ENSG00000196839,
  • ADA

Genome feature

Region: gene ? Length: 32240  
Location: 20:44619519-44651758 reverse strand Cyto location: 20q13.12


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

423 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results