GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: MVK

id4598
symbolMVK
organismHomo sapiens
full namemevalonate kinase
summaryThis gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
variant-disease

NM_000431.4(MVK):c.-13_78+1del AND Hyperimmunoglobulin D with periodic fever

NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) AND Hyperimmunoglobulin D with periodic fever

NM_000431.4(MVK):c.1100G>C (p.Cys367Ser) AND Hyperimmunoglobulin D with periodic fever

NM_000431.4(MVK):c.116T>C (p.Leu39Pro) AND Hyperimmunoglobulin D with periodic fever

NM_000431.4(MVK):c.238G>A (p.Val80Ile) AND Hyperimmunoglobulin D with periodic fever

... 334 more


Partner site capture a screenshot on site-shot.com.