AK4
adenylate kinase 4
Summary
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]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777015692 | 1:65,614,161 | G/A | — | uncertain significance |
| rs547617630 | 1:65,614,166 | G/T | — | uncertain significance |
| rs1109374 | 1:65,633,497 | T/G | — | — |
| rs113091602 | 1:65,634,454 | C/G | intron variant | — |
| rs370616612 | 1:65,656,412 | G/T | — | uncertain significance |
| rs1403655933 | 1:65,656,414 | A/G | — | uncertain significance |
| rs143331044 | 1:65,656,459 | G/A | — | uncertain significance |
| rs771129711 | 1:65,656,464 | A/G | — | uncertain significance |
| rs374922038 | 1:65,656,489 | G/A | — | uncertain significance |
| rs746819643 | 1:65,684,451 | T/G | — | uncertain significance |
| rs376330094 | 1:65,684,547 | C/T | — | uncertain significance |
| rs1652215234 | 1:65,684,596 | C/T | — | uncertain significance |
| rs765366640 | 1:65,690,447 | G/A | — | likely benign |
| rs2524663077 | 1:65,691,827 | G/T | — | uncertain significance |
| rs7511787 | 1:65,695,054 | G/T | — | — |
| rs1336472 | 1:65,695,930 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.