C-KIT

From WikiMD's Wellness Encyclopedia



C-KIT (also known as KIT, CD117, or stem cell factor receptor) is a protein that in humans is encoded by the KIT gene. C-KIT is a type of receptor tyrosine kinase that is important in the regulation of cellular processes such as cell proliferation, apoptosis, and differentiation.

Function[edit | edit source]

C-KIT is a receptor for the stem cell factor (SCF), also known as steel factor or mast cell growth factor. Upon binding to SCF, C-KIT undergoes dimerization and autophosphorylation, activating its tyrosine kinase activity. This activation triggers multiple downstream signaling pathways, including the PI3K/AKT pathway, RAS/RAF/MEK/ERK pathway, and JAK/STAT pathway, which are involved in cell survival, proliferation, and differentiation.

Clinical significance[edit | edit source]

Mutations in the KIT gene can lead to various diseases and disorders. Gain-of-function mutations are associated with gastrointestinal stromal tumors (GISTs), mastocytosis, and certain types of leukemia. Loss-of-function mutations can result in piebaldism, a condition characterized by patches of unpigmented skin and hair.

C-KIT is also a target for certain cancer therapies. Imatinib, a tyrosine kinase inhibitor, is used to treat cancers that exhibit overactive C-KIT signaling, such as GISTs.

Research[edit | edit source]

Research on C-KIT continues to explore its role in cancer biology, hematopoiesis, and stem cell biology. Understanding the mechanisms of C-KIT signaling and its interactions with other cellular pathways is crucial for developing targeted therapies for diseases associated with C-KIT dysregulation.

See also[edit | edit source]

References[edit | edit source]


{{Navbox | name = Genes on human chromosome 4 | title = Genes on human chromosome 4 | listclass = hlist

| group1 = Locus 4p16.3 | list1 =

| group2 = Locus 4q21-q22 | list2 =

| group3 = Locus 4q25 | list3 =

| group4 = Locus 4q28.3 | list4 =

| group5 = Locus 4q31.21 | list5 =

| group6 = Locus 4q32-q35 | list6 =

| group7 = Other notable genes | list7 =

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Contributors: Prab R. Tumpati, MD