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Biochem/physiol Actions

The protein has a role in melanocyte development.

General description

c-KIT (T670I) is a protein that belongs to the type I cytokine receptor family which combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. c-KIT (T670I) is a good candidate gene and the mutation of this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. The gene encoding this protein is localized on human chromosome 4q12.

Legal Information

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Physical form

Supplied in 50 mM Tris-HCl, pH 7.5, 150 mM NaCl, 10 mM glutathione, 0.1 mM EDTA, 0.25 mM DTT, 0.1 mM PMSF, 25% glycerol.

Preparation Note

After opening, aliquot into smaller quantities and store at -70 °C. Avoid repeating handling and multiple freeze/thaw cycles.