Aliases: C-Kit, CD117, PBT, SCFR
Chromosome No: 4
Chromosome Band: 4q12
Genetic Category: Syndromic-Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 7
Evidence score: 0
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Relevance to Autism
A homozygous deletion of exons 20 and 21 of the KIT gene was identified in a male proband with ASD, developmental delay, severe piebaldism (depigmentation of the skin and hair), and deafness; the proband's parents, who were diagnosed with mild piebaldism, were confirmed heterozygotes for the deletion (Kilsby et al., 2013).
Molecular Function
This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism.
External Links
