FGFR1

FGFR1 gene encodes a protein crucial for cell growth and development.

Associated Diseases

Encephalocraniocutaneous lipomatosis- somatic mosaic, Hartsfield syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome, Trigonocephaly 1

Did you know

The FGFR1 gene, which encodes the Fibroblast Growth Factor Receptor 1 protein, plays a vital role in various cellular processes, including cell growth, proliferation, and differentiation. Mutations in the FGFR1 gene have been associated with several genetic disorders, including craniosynostosis and Kallmann syndrome. Additionally, FGFR1 alterations have been implicated in certain cancers, such as breast and lung cancer.

The prevalence of mutations in the FGFR1 gene varies depending on the specific disorder or condition. For example, craniosynostosis, a condition characterized by the premature fusion of skull bones, affects approximately 1 in 2,500 to 1 in 2,000 live births, with FGFR1 mutations being a significant contributor to its etiology. Understanding the role of the FGFR1 gene and its associated conditions is essential for diagnosis, treatment, and genetic counseling for affected individuals and their families.