ADK
Function
Catalyzes the phosphorylation of the purine nucleoside adenosine at the 5' position in an ATP-dependent manner. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenosine: step 1/1.
Sequence Similarities
Belongs to the carbohydrate kinase PfkB family.
Tissue Specificity
Widely expressed. Highest level in placenta, liver, muscle and kidney.
Cellular localization
- Isoform 1
- Nucleus
- Isoform 2
- Cytoplasm
Alternative names
Adenosine kinase, AK, Adenosine 5'-phosphotransferase, ADK