rs886047232

This variant is located in the ADK gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Adenosine kinase deficiency

About ADK

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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