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KITLG |
Gene Facts External Data Attribution
- HGNC Symbol
- KITLG (HGNC:6343) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- KIT ligand
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MGF
- Alias symbols
- SCF, SF, Kitl, KL-1, FPH2, SLF, DFNA69
- %HI
- 0.47(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.9(Read more about gnomAD pLI score)
- LOEUF
- 0.58(Read more about gnomAD LOEUF score)
- Cytoband
- 12q21.32
- Genomic Coordinates
-
GRCh37/hg19: chr12:88886570-88974248 NCBI Ensembl UCSC GRCh38/hg38: chr12:88492793-88580471 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000899.5 ENST00000644744.1 (Read more about MANE Select)
- Function
- 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 ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-3690
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)
