KITLG
Chr 12ADARKIT ligand
Also known as: DCUA, DFNA69, FPH2, FPHH, KL-1, Kitl, MGF, SCF
This gene encodes KIT ligand (also called stem cell factor), which binds to the KIT receptor and regulates cell survival, proliferation, hematopoiesis, stem cell maintenance, gametogenesis, and melanogenesis. Mutations cause piebaldism, characterized by congenital patches of depigmented skin and white hair, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function mutations, indicating that complete loss of function is likely incompatible with normal development.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KITLG · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools