Human Mevalonate Kinase (MVK) ELISA Kit | MVK elisa kit

Human Mevalonate Kinase (MVK) ELISA Kit

Cat. Num. AAA3803407

• Gene Names: MVK; MK; LRBP; MVLK; POROK3
• Reactivity: Human
• Synonyms: Mevalonate Kinase (MVK); Human Mevalonate Kinase (MVK) ELISA Kit; MVK elisa kit

• Reactivity: Human
• Sequence Length: 396

• Samples: Serum, plasma, cell culture supernate and other biological fluids
• Assay Type: Sandwich
• Detection Range: 12.5 pg/ml-200 pg/ml
• Sensitivity: 1 pg/ml

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for MVK elisa kit

Intended Use: The Stop Solution changes the color from blue to yellow and the intensity of the color is measured at 450 nm using a spectrophotometer. In order to measure the concentration ofMVKin the sample, This MVKELISA Kit includes a set of calibration standards. The calibration standards are assayed at the same time as the samples and allow the operator to produce a standard curve of Optical Density versusMVKconcentration. The concentration ofMVKin the samples is then determined by comparing the O.D. of the samples to the standard curve.

NCBI and Uniprot Product Information

• NCBI GI #: 167001643
• NCBI GeneID: 4598
• NCBI Accession #: NP_001107657.1
• NCBI GenBank Nucleotide #: NP_001107657.1
• UniProt Accession #: Q03426
• 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
• UniProt Entry Name: KIME_HUMAN

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; Translation; RNA-binding; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis

Chromosomal Location of Human Ortholog: 12q24

Cellular Component: peroxisome; cytosol

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

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

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