Human Mevalonate Kinase ELISA Kit | MVK elisa kit

Mevalonate Kinase Colorimetric Cell-Based ELISA Kit

Cat. Num. AAA9500804

• Gene Names: MVK; MK; LRBP; MVLK; POROK3
• Reactivity: Human
• Synonyms: Mevalonate Kinase; Mevalonate Kinase Colorimetric Cell-Based ELISA Kit; Mevalonate kinase; MK; MVK; MVK elisa kit

• Reactivity: Human
• Form/Format: One 96-Well Plate
• Sequence Length: 396

• Samples: Researchers plate their cell line of choice
• Assay Type: Non-Phospho Cell-Based ELISA
• Sensitivity: >=5000 cells/well
• Detection Method: Colorimetric 450 nm
• Preparation and Storage: Store at 4 degree C.

Product Categories/Family for MVK elisa kit

Cell Based ELISA Kit

NCBI and Uniprot Product Information

• NCBI GI #: 4557769
• NCBI GeneID: 4598
• NCBI Accession #: NP_000422.1
• NCBI GenBank Nucleotide #: NM_000431.3
• UniProt Accession #: Q03426
• Molecular Weight: 42 kDa
• NCBI Official Full Name: mevalonate kinase isoform a
• NCBI Official Synonym Full Names: mevalonate kinase
• NCBI Official Symbol: MVK
• NCBI Official Synonym Symbols: MK; LRBP; MVLK; POROK3
• NCBI Protein Information: mevalonate kinase
• UniProt Protein Name: Mevalonate kinase
• Protein Family: Mevalonate kinase
• UniProt Gene Name: MVK
• UniProt Synonym Gene Names: MK

NCBI Description

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 Description

MVK: May be a regulatory site in cholesterol biosynthetic pathway. Defects in MVK are the cause of mevalonic aciduria (MEVA). It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. Belongs to the GHMP kinase family. Mevalonate kinase subfamily.

Protein type: EC 2.7.1.36; Kinase, other; RNA-binding; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Translation

Chromosomal Location of Human Ortholog: 12q24.11

Cellular Component: cytosol; peroxisome

Molecular Function: ATP binding; identical protein binding; mevalonate kinase activity; protein binding

Biological Process: cholesterol biosynthetic process; isopentenyl diphosphate biosynthetic process, mevalonate pathway; isoprenoid biosynthetic process; negative regulation of inflammatory response; phosphorylation; regulation of cholesterol biosynthetic process

Disease: Hyper-igd Syndrome; Mevalonic Aciduria; Porokeratosis 3, Disseminated Superficial Actinic Type