Description
Recombinant human c-KIT (T670I)(544-end) was expressed by baculovirus in Sf9 insect cells using an N-terminal GST tag. The gene accession number is NM_000222.
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 (1). 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 (2)