NP_000422.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
mevalonate kinase isoform a
NCBI Official Synonym Full Names
mevalonate kinase
NCBI Protein Information
mevalonate kinase
UniProt Protein Name
Mevalonate kinase
UniProt Synonym Gene Names
NCBI Summary for MVK
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]
UniProt Comments for MVK
May be a regulatory site in cholesterol biosynthetic pathway.
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Pathways associated with anti-MVK antibody
Diseases associated with anti-MVK antibody
Organs/Tissues associated with anti-MVK antibody
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