Product Datasheet
MVK Antibody
Catalog Number: 32794
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot:Q03426
NCBI Gene ID:4598
- Form of Antibody:
- Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
- Immunogen:
- Recombinant protein of human MVK.
- appl_detail:
- WB 1:500 - 1:2000
- other_names:
- MK; LRBP; MVLK; POROK3;
- Purification:
- Antibodies were purified by affinity purification using immunogen.
- Specificity:
- The antibody detects endogenous level of total MVK protein.
- Background:
- 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. Two transcript variants that encode the same protein have been found for this gene.
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