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MVK - mevalonate kinase
- Synonym(s) : LH receptor mRNA-binding protein, LRBP, mevalonic aciduria, MK
- Previous symbols and names : Mevalonate kinase (mevalonic aciduria), mevalonate kinase (mevalonic aciduria)
- Type : gene with protein product
- Chromosomal location : 12q24.11
- OMIM: 251170
- HGNC: 7530
- UniProtKB: Q03426
- Genatlas: MVK
- GenCC: MVK
- Ensembl: ENSG00000110921
- IUPHAR-DB: 640
- Reactome: Q03426
- LOVD: MVK
Diseases list
- Disease-causing germline mutation(s) in Disseminated superficial actinic porokeratosis
ORPHA:79152 - Disease-causing germline mutation(s) in Hyperimmunoglobulinemia D with periodic fever
ORPHA:343 - Disease-causing germline mutation(s) in Mevalonic aciduria
ORPHA:29 - Disease-causing germline mutation(s) in Porokeratosis of Mibelli
ORPHA:735

Additional information
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