C-Kit Somatic Mutation - exon 8
Breed: ALL
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
C-Kit Somatic Mutation - exon 8
OMIA
-62
Gene Name
c-kit
Mutation
point mutation Q430R insertions and deletions
Test Type
Diagnostic Tool
Details
All mast cells require a tyrosine kinase receptor called c-kit, (also known as stem cell factor (SCF) receptor), which is a protein on the membrane of the cell, to survive. SCF is a growth factor for blood cells and therefore stimulates production of various types of blood cells. In some mast cell tumors, a mutation in the gene that codes for the c-kit receptor can occur that results in production of a receptor that is always activated which can result in mast cell tumors developing in dogs. Currently you can find testing options for the most common exon 11, but also testing options that include multiple exons: 11, 8, 9, 17. You can view exon/mutation information under phenes C-Kit 11, C-Kit 9, and C-Kit 17
Published 2
Published 3
Body/System/Process
Multisystem
Inheritance
TBC
Phene Discovery
TBC
HSP Test-Specific Data
Genefast s.r.l. (Laboratorio Genefast)
GTP
GTP Name
Genefast s.r.l. (Laboratorio Genefast)
Breed
OMIA
Gene Name
exon 8
Mutation
point mutation Q430R insertions and deletions
Nature of test
mutation test
Inheritance
AR
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