Overview:

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).

Gene Aliases:

PBT, SCFR, CD118

Genbank Number:

NM_000222

References:

1. Gearing, D. P. et.al: The leukemia inhibitory factor receptor (LIFR) gene is located within a cluster of cytokine receptor loci on mouse chromosome 15 and human chromosome 5p12-p13. Genomics 18: 148-150, 1993.2. Dagoneau, N. et.al: Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am. J. Hum. Genet. 74: 298-305, 2004.