ADK

Chr 10

adenosine kinase

Also known as: AK

NCBI Gene: 132 ENSG00000156110 UniProt: P55263

Adenosine kinase phosphorylates adenosine to adenosine monophosphate in an ATP-dependent manner and plays a key role in detoxifying modified adenosines containing methylated adenine that arise from RNA degradation. Mutations cause hypermethioninemia due to adenosine kinase deficiency, which follows autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants (pLI 0.0003, LOEUF 0.798).

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypermethioninemia due to adenosine kinase deficiency

Clinical highlights

Gene-disease validity (ClinGen)

adenosine kinase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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