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KITLG - KIT ligand
- Synonym(s) : DFNA69, familial progressive hyperpigmentation 2, FPH2, Kitl, KL-1, mast cell growth factor, SCF, SF, SLF, steel factor, stem cell factor
- Previous symbols and names : MGF
- Type : gene with protein product
- Chromosomal location : 12q21.32
- OMIM: 184745
- HGNC: 6343
- UniProtKB: P21583
- Genatlas: KITLG
- Ensembl: ENSG00000049130
- IUPHAR-DB: -
- Reactome: P21583
- LOVD: KITLG
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635 
- Disease-causing germline mutation(s) in Familial progressive hyper- and hypopigmentation
ORPHA:280628 - Disease-causing germline mutation(s) in Waardenburg syndrome type 2
ORPHA:895 - Disease-causing germline mutation(s) (gain of function) in Familial progressive hyperpigmentation
ORPHA:79146 - Major susceptibility factor in Non-seminomatous germ cell tumor of testis
ORPHA:363494
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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