AK4
Chr 1adenylate kinase 4
Also known as: AK 4, AK3, AK3L1, AK3L2
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.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AK4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools