KIT ligand
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Diagnostic Grade (Green)
Neurofibromatosis Type 1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownhyperpigmentation with or without hypopigmentation, familial progressive
Waardenburg syndrome, IIa 2F
autosomal dominant nonsyndromic hearing loss 69
testicular cancer
Non-syndromic genetic deafness
hair color
familial progressive hyper- and hypopigmentation
actinic keratosis
testicular germ cell tumor
male reproductive organ cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Kit ligand
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
KITLG · P21583
Mean pLDDT
71.9/ 100
Confident
273 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
