What type of gene is KIT?
KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with KIT include Gastrointestinal Stromal Tumor and Piebald Trait. Among its related pathways are PI3K/AKT activation and p70S6K Signaling.
Is KIT the same as c-kit?
KIT is a receptor tyrosine kinase type III, which binds to stem cell factor (a substance that causes certain types of cells to grow), also known as “steel factor” or “c-kit ligand”.
What is the KIT gene in horses?
The KIT gene has crucial function for the development of many cell types, including blood and pigment cells (melanocytes). Mutations that affect normal functioning of the KIT protein often result in lack of melanocytes in the skin and hair follicles, which leads to white patterning in horses known as dominant white.
What does KIT stand for in cancer?
Receptor tyrosine kinase (c-Kit) inhibitors: a potential therapeutic target in cancer cells.
What is KIT mutation testing?
This test is intended to detect KIT gene mutations in exons 8 through 11 and 17 that occur in hematologic malignant neoplasms, including specifically acute myeloid leukemia and mastocytosis. This test identifies somatic (acquired) mutations in these tumors.
Is KIT gene dominant or recessive?
In pigs, the wild-type KIT allele is recessive and denoted as i. Previous studies have claimed that the semidominant IP and the dominant I alleles of KIT confer the patch and dominant white phenotype, respectively (Figure 1A).
Where is the KIT gene located?
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.
What is a perlino horse?
A perlino is a bay horse that with two cream genes. They look very similar to cremellos, except that their points are just slightly darker. Perlinos have the same light blue eyes.
Is white a dominant color in cats?
A kitten’s pattern can be inherited from either parent. A dominant characteristic (all dominant colors and patterns such as shaded, smoke, white, tabby, bi-color, etc.)
What does C KIT do?
As an important member of tyrosine kinase family, c-kit receptor causes specific expression of certain genes, regulates cell differentiation and proliferation, resists cell apoptosis, and plays a key role in tumor occurrence, development, migration and recurrence through activating the downstream signaling molecules …
What is the function of the KIT gene?
Normal Function The KIT gene provides instructions for making a member of a protein family called receptor tyrosine kinases. Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction.
What are the four variants of the KIT gene?
These white patterns can be grouped into four different variants of the Kit gene: Sabino (SB1), Tobiano (TO), Roan (RN), and Dominant White (W). However, unlike the other spotting patterns caused by changes in the KIT gene’s DNA sequence, the Tobiano is instead associated with a chromosome inversion very close to KIT.
Why is the KIT gene important to melanocytes?
The KIT gene provides instructions for making a protein that is involved in signaling within cells. KIT protein signaling is important for the development of certain cell types, including melanocytes. The KIT gene mutations responsible for piebaldism lead to a nonfunctional KIT protein.
What’s the name of the white gene in horses?
The KIT gene in horses is responsible for many different white patterns. These white patterns can be grouped into four different variants of the Kit gene: Sabino (SB1), Tobiano (TO), Roan (RN), and Dominant White (W).
What are mutations in the kit and SNAI2 genes?
Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms. The KIT gene provides instructions for making a protein that is involved in signaling within cells.