AK4

Chr 1

adenylate kinase 4

Also known as: AK 4, AK3, AK3L1, AK3L2

NCBI Gene: 205 ENSG00000162433 UniProt: P27144

The protein functions as a broad-specificity mitochondrial nucleoside phosphate kinase that maintains cellular nucleotide homeostasis by catalyzing phosphate transfers between nucleotides, particularly converting AMP to ADP using ATP as a phosphate donor, and plays a protective role against oxidative stress. Mutations cause reticular dysgenesis, a severe combined immunodeficiency with sensorineural hearing loss that presents in infancy. This condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [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

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P/LP missense

0.79

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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