PMVK
phosphomevalonate kinase
Summary
This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs763078182 | 1:154,897,561 | A/C | — | benign |
| rs370067596 | 1:154,897,619 | G/A | — | uncertain significance |
| rs769971050 | 1:154,897,657 | C/T | — | uncertain significance |
| rs1047996967 | 1:154,897,734 | G/T | — | uncertain significance |
| rs371913341 | 1:154,898,835 | G/A | — | uncertain significance |
| rs1350346775 | 1:154,898,836 | T/A | — | likely benign |
| rs745983207 | 1:154,898,860 | G/A | stop gained | pathogenic |
| rs779946272 | 1:154,898,874 | G/A | — | uncertain significance |
| rs151267286 | 1:154,898,881 | C/G | — | uncertain significance |
| rs2101965598 | 1:154,898,893 | G/A | — | likely pathogenic |
| rs16836525 | 1:154,898,899 | C/T | — | benign |
| rs139145474 | 1:154,898,917 | G/A | — | uncertain significance |
| rs140728783 | 1:154,898,943 | C/T | — | likely pathogenic |
| rs182394263 | 1:154,899,755 | G/A | intron variant | — |
| rs139248801 | 1:154,901,525 | A/G | — | likely benign |
| rs148544851 | 1:154,901,589 | C/G | — | uncertain significance |
| rs1210128840 | 1:154,901,632 | C/A | — | uncertain significance |
| rs114951074 | 1:154,903,917 | C/T | intron variant | — |
| rs1891805 | 1:154,904,840 | T/C | — | benign |
| rs375325579 | 1:154,904,883 | G/C | — | uncertain significance |
| rs7543051 | 1:154,905,179 | A/G | — | benign |
| rs2101975113 | 1:154,908,901 | A/G | — | uncertain significance |
| rs373000976 | 1:154,909,083 | C/A | — | pathogenic |
| rs41264043 | 1:154,909,131 | C/T | — | uncertain significance |
| rs17356361 | 1:154,909,169 | C/T | — | benign |
| rs1109815 | 1:154,909,268 | A/G | — | benign |
| rs58629129 | 1:154,910,930 | T/C | upstream gene variant | — |
| rs191118792 | 1:154,910,978 | C/T | upstream gene variant | — |
| rs12046459 | 1:154,912,017 | A/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.