SCF ist ein Gen, das durch das Symbol KITLG kodiert wird. Es ist auch bekannt als: Kit ligand; Mast cell growth factor; MGF; Stem cell factor; c-Kit ligand; KITLG. SCF hat eine Masse von 30.9kDa, eine Aminosäurelänge von 273, und ist an folgenden Krankheiten beteiligt: Hyperpigmentation with or without hypopigmentation, familial progressive; Deafness, congenital, unilateral or asymmetric.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5. KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably interleukins.
Entrez Zusammenfassung
This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene.
Rolle bei Krankheiten
Hyperpigmentation with or without hypopigmentation, familial progressive: A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules.
Deafness, congenital, unilateral or asymmetric: An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss.
Sequenzähnlichkeiten
Belongs to the SCF family.
Posttranslationale Modifikation
A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in the extracellular domain.
