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Most cancer tissues showed moderate cytoplasmic immunoreactivity. Several hepatocellular carcinomas, thyroid, colorectal, prostate and renal cancers displayed strong staining. All skin cancers as well as a majority of lymphomas and lung cancers were weakly stained or negative.
GENE INFORMATION
Gene name
MVK (HGNC Symbol)
Synonyms
LRBP, MK
Description
Mevalonate kinase (HGNC Symbol)
Entrez gene summary
This 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]
Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
