ADK Chromosome 10
Adenosine kinase
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What This Gene Does
This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Associated Conditions (3)
Inborn genetic diseases
Adenosine kinase deficiency
ADK-related disorder
Key Variants
RS1194483230
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142477111
Conflicting classifications of pathogenicity
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS786205458
Conflicting classifications of pathogenicity
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS1589286482
Likely pathogenic
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS1855118837
Likely pathogenic
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS2548024083
Likely pathogenic
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS2547866979
Pathogenic
Health Risk
RS397514452
Pathogenic
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS397514453
Pathogenic
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS397514454
Pathogenic
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS1589387419
Pathogenic/Likely pathogenic
Adenosine kinase deficiency, Adenosine kinase deficiency
Health Risk
RS771117099
Pathogenic/Likely pathogenic
ADK-related disorder, ADK-related disorder
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1194483230 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142477111 | Health Risk | Conflicting classifications of pathogenicity | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS786205458 | Health Risk | Conflicting classifications of pathogenicity | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS1589286482 | Health Risk | Likely pathogenic | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS1855118837 | Health Risk | Likely pathogenic | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS2548024083 | Health Risk | Likely pathogenic | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS2547866979 | Health Risk | Pathogenic | — |
| RS397514452 | Health Risk | Pathogenic | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS397514453 | Health Risk | Pathogenic | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS397514454 | Health Risk | Pathogenic | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS1589387419 | Health Risk | Pathogenic/Likely pathogenic | Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS771117099 | Health Risk | Pathogenic/Likely pathogenic | ADK-related disorder, ADK-related disorder |