MVK Antilichaam - middengebied: Biotine (ARP56110 P050-Biotine)

Mevalonate kinase

MK, LRBP, MVLK, POROK3

4598

Q03426

NP_000422

Human, Mouse, Rat, Cow, Dog, Goat, Guinea Pig, Horse, Pig, Rabbit, Yeast, Zebrafish

The immunogen is a synthetic peptide directed towards the middle region of human MVK

MVK is 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.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.

MVK; PPP1CB; GSS; MAT1A; POT1; TERF1; UBC; EWSR1

Biotin

Polyclonal Antibody

WB

Affinity Purified

0.5 mg/ml

Cow: 100%; Dog: 86%; Goat: 86%; Guinea Pig: 93%; Horse: 93%; Human: 100%; Mouse: 100%; Pig: 100%; Rabbit: 100%; Rat: 100%; Yeast: 93%; Zebrafish: 93%

Liquid. Purified antibody supplied in 1x PBS buffer.

All conjugated antibodies should be stored in light-protected vials or covered with a light protecting material (i.e. aluminum foil) . Conjugated antibodies are stable for at least 12 months at 4C. If longer storage is desired (24 months), conjugates may be diluted with up to 50% glycerol and stored at -20C to -80C. Freezing and thawing conjugated antibodies will compromise enzyme activity as well as antibody binding.

42kDa

Gattorno, M., (2008) (er) Arthritis Rheum. 58 (6), 1823-1832

Wet Ice

396

MVK

MVK

Rabbit

Mevalonate kinase

NM_000431

KEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSP