FGFR4 gene
The FGFR4 gene provides instructions for a protein involved in muscle development, bone maturation, and cell signaling, with certain variations linked to cancer progression.
Normal Function
The FGFR4 gene provides instructions for making the fibroblast growth factor receptor 4 protein. This protein interacts with growth factors to transmit signals from outside the cell to the nucleus, helping the cell adjust to environmental changes by dividing, moving, or maturing. Studies indicate that FGFR4 is involved in muscle development, the maturation of skull bone cells, and the maintenance of foveal cones in the retina.
Health Conditions Related to Genetic Changes
Cancers
A common variation (polymorphism) in the FGFR4 gene, where glycine is replaced by arginine at position 388, is associated with accelerated disease progression in several types of cancer, including:
- Breast cancer
- Colon cancer
- Head and neck cancer
- Prostate cancer
While this variation produces no ill effects in healthy individuals, abnormal activation and increased activity of the FGFR4 gene are also implicated in the development of pituitary tumors and gastric, pancreatic, and ovarian cancers.
Other Names for This Gene
- CD334
- JTK2 Gene
- protein-tyrosine kinase
- TKF Gene
- tyrosylprotein kinase
