ADK gene

adenosine kinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.

From NCBI Gene:

  • Hypermethioninemia due to adenosine kinase deficiency

From UniProt:

Hypermethioninemia due to adenosine kinase deficiency (HMAKD): A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. [MIM:614300]

Cytogenetic Location: 10q22.2, which is the long (q) arm of chromosome 10 at position 22.2

Molecular Location: base pairs 74,151,185 to 74,709,303 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q22.2, which is the long (q) arm of chromosome 10 at position 22.2