KITLG
Description
The KITLG (KIT ligand) is a protein-coding gene located on chromosome 12.
KITLG (also known as stem cell factor, SCF, KIT-ligand, KL, or steel factor) is a cytokine that binds to the c-KIT receptor (CD117). KITLG can exist both as a transmembrane protein and a soluble protein. This cytokine plays an important role in hematopoiesis (formation of blood cells), spermatogenesis, and melanogenesis. The gene encoding KITLG is found on chromosome 12q22-12q24 in humans. The soluble and transmembrane forms of the protein are formed by alternative splicing of the same RNA transcript. The soluble form of KITLG contains a proteolytic cleavage site in exon 6, allowing the extracellular portion of the protein to be released. The transmembrane form of KITLG is formed by alternative splicing that excludes exon 6. Both forms of KITLG bind to c-KIT and are biologically active. Soluble and transmembrane KITLG is produced by fibroblasts and endothelial cells. Soluble KITLG has a molecular weight of 18,5 kDa and forms a dimer.
KITLG, also known as stem cell factor (SCF), is a ligand for the KIT receptor tyrosine kinase. It plays a vital role in various biological processes, including cell survival, proliferation, hematopoiesis (blood cell formation), stem cell maintenance, gametogenesis (reproductive cell development), mast cell development and function, and melanogenesis (pigment production). KITLG binding to KIT activates multiple signaling pathways. These pathways include the phosphorylation of PIK3R1, activating the kinase AKT1; activation of RAS, RAF1 and MAP kinases ERK1/2 through the GRB2 signaling pathway; activation of STAT family members STAT1, STAT3, and STAT5; and activation of PLCG1, leading to the production of diacylglycerol and inositol 1,4,5-trisphosphate. KITLG functions synergistically with other cytokines, potentially interleukins.
KITLG is also known as DCUA, DFNA69, FPH2, FPHH, KL-1, Kitl, MGF, SCF, SF, SHEP7, SLF, WS2F.
Associated Diseases
- Hyperpigmentation, familial progressive
- Deafness, autosomal dominant 69
- Waardenburg syndrome type 2
- Waardenburg syndrome, type 2F
