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Product Name MVK Chinese Name 甲羟戊酸激酶抗体 Alias LH receptor mRNA binding protein; LRBP; Mevalonate kinase; Mevalonic aciduria; MK antibody MVLK; KIME_HUMAN. Research Area Tumour Cell biology immunology transcriptional regulatory factor Kinases and Phosphatases Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 42kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human MVK: 101-200/396 Lsotype IgG Purification affinity purified by Protein A Buffer Solution Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4 Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail MVK 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 MVK results in mevalonic aciduria.
Function:
May be a regulatory site in cholesterol biosynthetic pathway.
Subunit:
Homodimer.
Subcellular Location:
Cytoplasm.
DISEASE:
Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:610377]. 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) [MIM:260920]. 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.
Similarity:
Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
SWISS:
Q03426
Gene ID:
4598
Database links:Entrez Gene: 4598 Human
Omim: 251170 Human
SwissProt: Q03426 Human
Unigene: 130607 Human
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