Identity
HGNC
LOCATION
12q24.11
LOCUSID
ALIAS
LRBP,MK,MVLK,POROK3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4598
MIM: 251170
HGNC: 7530
Ensembl: ENSG00000110921
Variants:
dbSNP: 4598
ClinVar: 4598
TCGA: ENSG00000110921
COSMIC: MVK
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443532 | Bone Diseases | Disease | ClinicalAnnotation | associated | PD | 25223561 | |
| PA448082 | alendronate | Chemical | ClinicalAnnotation | associated | PD | 25223561 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38550596 | 2024 | Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype. | 0 |
| 38550596 | 2024 | Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype. | 0 |
| 36371681 | 2023 | A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis. | 1 |
| 36371681 | 2023 | A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis. | 1 |
| 34145613 | 2021 | Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. | 10 |
| 34751146 | 2021 | Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis. | 2 |
| 34145613 | 2021 | Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. | 10 |
| 34751146 | 2021 | Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis. | 2 |
| 32822427 | 2020 | Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. | 7 |
| 32822427 | 2020 | Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. | 7 |
| 30597534 | 2019 | Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis. | 6 |
| 31135083 | 2019 | Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes. | 4 |
| 31207227 | 2019 | Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. | 19 |
| 31474985 | 2019 | Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency. | 11 |
| 30597534 | 2019 | Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis. | 6 |
Citation
Dessen P
MVK (mevalonate kinase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70590/mvk-(mevalonate-kinase)
