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Genetics Home Reference: your guide to understanding genetic conditions
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KIT

Reviewed September 2014

What is the official name of the KIT gene?

The official name of this gene is “v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog.”

KIT is the gene's official symbol. The KIT gene is also known by other names, listed below.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the KIT gene related to health conditions?

piebaldism - caused by mutations in the KIT gene

At least 69 KIT gene mutations have been identified in people with piebaldism. This condition is characterized by white patches of skin and hair caused by a lack of melanocytes. The mutations responsible for piebaldism lead to a nonfunctional KIT protein. The loss of KIT signaling is thought to disrupt melanocyte migration and proliferation during development, resulting in patches of skin that lack pigmentation.

gastrointestinal stromal tumor - associated with the KIT gene

Mutations in the KIT gene are the most common genetic changes associated with gastrointestinal stromal tumors (GISTs). GISTs are a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. In most cases, these KIT gene mutations are acquired during a person's lifetime and are called somatic mutations. Somatic mutations, which lead to sporadic GISTs, are present only in the tumor cells and are not inherited. Less commonly, KIT gene mutations that increase the risk of developing GISTs are inherited from a parent, which can lead to familial GISTs.

KIT gene mutations associated with GISTs create a protein that no longer requires binding of the stem cell factor protein to be activated. As a result, the KIT protein and the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of ICCs, leading to GIST formation.

other cancers - associated with the KIT gene

Somatic mutations in the KIT gene have been identified in several cancers. KIT gene mutations are involved in some cases of acute myeloid leukemia, which is a cancer of a type of blood cell known as myeloid cells, and sinonasal natural killer/T-cell lymphoma (NKTCL), another blood cell cancer that occurs in the nasal passages. In addition, some people with seminoma, a type of testicular cancer, have a KIT gene mutation. The genetic changes involved in acute myeloid leukemia and seminomas lead to a KIT protein that is constitutively activated. The constant signaling causes overproliferation of the cells that make up these tumors. It is unclear how the KIT mutations in NKTCL are involved in the condition.

other disorders - associated with the KIT gene

KIT gene mutations are also involved in mastocytosis, which represents a group of related conditions. These conditions are characterized by an overgrowth of mast cells, which are cells that trigger inflammation during an allergic reaction or an infection. Accumulation of excess mast cells in the skin causes a condition called urticaria pigmentosa, and accumulation in additional organs leads to systemic mastocytosis. The KIT gene mutations involved in this group of conditions lead to a constitutively activated KIT protein, which causes the overgrowth of mast cells.

Where is the KIT gene located?

Cytogenetic Location: 4q12

Molecular Location on chromosome 4: base pairs 54,657,927 to 54,740,714

The KIT gene is located on the long (q) arm of chromosome 4 at position 12.

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 54,657,927 to base pair 54,740,714 on chromosome 4.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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?

  • CD117
  • C-Kit
  • KIT_HUMAN
  • mast/stem cell growth factor receptor Kit
  • p145 c-kit
  • PBT
  • piebald trait protein
  • proto-oncogene c-Kit
  • proto-oncogene tyrosine-protein kinase Kit
  • SCFR
  • tyrosine-protein kinase Kit
  • v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x. Epub 2009 Jun 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19555431?dopt=Abstract)
  • Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, Burn J, Falabella R, Gatto EM, Ishii N, et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan;56(1):58-66. (http://www.ncbi.nlm.nih.gov/pubmed/7529964?dopt=Abstract)
  • Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998 Jan 23;279(5350):577-80. (http://www.ncbi.nlm.nih.gov/pubmed/9438854?dopt=Abstract)
  • Hongyo T, Li T, Syaifudin M, Baskar R, Ikeda H, Kanakura Y, Aozasa K, Nomura T. Specific c-kit mutations in sinonasal natural killer/T-cell lymphoma in China and Japan. Cancer Res. 2000 May 1;60(9):2345-7. (http://www.ncbi.nlm.nih.gov/pubmed/10811105?dopt=Abstract)
  • Isozaki K, Terris B, Belghiti J, Schiffmann S, Hirota S, Vanderwinden JM. Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am J Pathol. 2000 Nov;157(5):1581-5. (http://www.ncbi.nlm.nih.gov/pubmed/11073817?dopt=Abstract)
  • Lim KH, Pardanani A, Tefferi A. KIT and mastocytosis. Acta Haematol. 2008;119(4):194-8. doi: 10.1159/000140630. Epub 2008 Jun 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18566536?dopt=Abstract)
  • López V, Jordá E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb 15;17(2):13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21382296?dopt=Abstract)
  • Nakai Y, Nonomura N, Oka D, Shiba M, Arai Y, Nakayama M, Inoue H, Nishimura K, Aozasa K, Mizutani Y, Miki T, Okuyama A. KIT (c-kit oncogene product) pathway is constitutively activated in human testicular germ cell tumors. Biochem Biophys Res Commun. 2005 Nov 11;337(1):289-96. (http://www.ncbi.nlm.nih.gov/pubmed/16188233?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3815)
  • Roskoski R Jr. Signaling by Kit protein-tyrosine kinase--the stem cell factor receptor. Biochem Biophys Res Commun. 2005 Nov 11;337(1):1-13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16129412?dopt=Abstract)
  • Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet. 1992 Feb;50(2):261-9. (http://www.ncbi.nlm.nih.gov/pubmed/1370874?dopt=Abstract)
  • Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994 Nov;103(5 Suppl):137S-140S. Review. (http://www.ncbi.nlm.nih.gov/pubmed/7525736?dopt=Abstract)
  • Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997 Mar;16(1):15-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9125761?dopt=Abstract)
  • Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. 2004 Oct;43(10):716-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15485525?dopt=Abstract)
  • OMIM: V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG (http://omim.org/entry/164920)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2014
Published: April 20, 2015