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Reviewed September 2014
What is the official name of the KIT gene?
The official name of this gene is “KIT proto-oncogene receptor tyrosine kinase.”
KIT is the gene's official symbol. The KIT gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the KIT gene?
The KIT gene provides instructions for making a protein that belongs to a family of proteins called receptor tyrosine kinases. Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. The KIT protein is found in the cell membrane of certain cell types where a specific protein, called stem cell factor, attaches (binds) to it. This binding turns on (activates) the KIT protein, which then activates other proteins inside the cell by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. This process, called phosphorylation, leads to the activation of a series of proteins in multiple signaling pathways.
The signaling pathways stimulated by the KIT protein control many important cellular processes such as cell growth and division (proliferation), survival, and movement (migration). KIT protein signaling is important for the development of certain cell types, including reproductive cells (germ cells), early blood cells (hematopoietic stem cells), immune cells called mast cells, cells in the gastrointestinal tract called interstitial cells of Cajal (ICCs), and cells called melanocytes. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color.
Does the KIT gene share characteristics with other genes?
The KIT gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called immunoglobulin superfamily, immunoglobulin-like domain containing (immunoglobulin superfamily, immunoglobulin-like domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the KIT gene related to health conditions?
Genetics Home Reference provides information about core binding factor acute myeloid leukemia, which is also associated with changes in the KIT gene.
Where is the KIT gene located?
Cytogenetic Location: 4q12
Molecular Location on chromosome 4: base pairs 54,657,928 to 54,740,715
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The KIT gene is located on the long (q) arm of chromosome 4 at position 12.
More precisely, the KIT gene is located from base pair 54,657,928 to base pair 54,740,715 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KIT?
You and your healthcare professional may find the following resources about KIT helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the KIT gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding KIT?
acute ; acute myeloid leukemia ; biomarker ; cancer ; cell ; cell membrane ; familial ; gastrointestinal ; gene ; germ cells ; growth factor ; hematopoietic ; infection ; inflammation ; inherited ; intestine ; kinase ; leukemia ; lymphoma ; mast cells ; melanin ; melanocytes ; mutation ; myeloid ; oncogene ; oxygen ; pharmacogenetics ; phosphate ; phosphorus ; phosphorylation ; pigment ; pigmentation ; proliferation ; protein ; proto-oncogene ; receptor ; reproductive cells ; sarcoma ; signal transduction ; sporadic ; stem cells ; stomach ; trait ; transduction ; tumor ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (15 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.