MVK Antibody

Catalog Number:

32794

Amount:

100μg

Price:

$319

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.

Storage/Stability:

Immunogen:

Recombinant protein of human MVK.

Purification:

Antibodies were purified by affinity purification using immunogen.

Specificity/Sensitivity:

The antibody detects endogenous level of total MVK protein.

Applications:

WB

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.

References:

appl_detail:

WB 1:500 - 1:2000

Datasheet PDF