AK1 Chromosome 9
Adenylate kinase 1
Upload your DNA to see your personal genotypes for variants in AK1.
What This Gene Does
This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]
Gene Info
Gene Group
"Adenylate kinases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000106992
Associated Conditions (3)
Hemolytic anemia due to adenylate kinase deficiency
Hepatocellular carcinoma
Adenylate kinase deficiency
Key Variants
RS104894102
Likely pathogenic
Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
Health Risk
RS1338494405
Likely pathogenic
Health Risk
RS104894101
Pathogenic
Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
Health Risk
RS137853203
Pathogenic
Hemolytic anemia due to adenylate kinase deficiency, Hepatocellular carcinoma, Hemolytic anemia due to adenylate kinase deficiency
Health Risk
RS137853204
Pathogenic
Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
Health Risk
RS137853205
Pathogenic
Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
Health Risk
RS2131401746
Pathogenic
Hemolytic anemia due to adenylate kinase deficiency, Adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
Health Risk
RS387906582
Pathogenic
Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
Health Risk
RS387906583
Pathogenic
Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894102 | Health Risk | Likely pathogenic | Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency |
| RS1338494405 | Health Risk | Likely pathogenic | — |
| RS104894101 | Health Risk | Pathogenic | Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency |
| RS137853203 | Health Risk | Pathogenic | Hemolytic anemia due to adenylate kinase deficiency, Hepatocellular carcinoma, Hemolytic anemia due to adenylate kinase deficiency |
| RS137853204 | Health Risk | Pathogenic | Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency |
| RS137853205 | Health Risk | Pathogenic | Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency |
| RS2131401746 | Health Risk | Pathogenic | Hemolytic anemia due to adenylate kinase deficiency, Adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency |
| RS387906582 | Health Risk | Pathogenic | Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency |
| RS387906583 | Health Risk | Pathogenic | Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency |