AK5

Chr 1

adenylate kinase 5

Also known as: AK6

NCBI Gene: 26289 ENSG00000154027 UniProt: Q9Y6K8

The protein functions as a nucleoside monophosphate kinase that catalyzes phosphate transfer between nucleoside triphosphates and monophosphates, maintaining cellular adenine nucleotide balance and is expressed exclusively in the brain. Mutations cause autosomal recessive intellectual disability with seizures and spasticity. The gene is highly constrained against loss-of-function variants (LOEUF 0.558), reflecting its essential role in brain metabolism.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.56

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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