MFRP

Description

The MFRP gene (also known as Membrane-Associated Fibroblast Growth Factor Receptor) plays a crucial role in various biological processes, particularly in eye development and function. This gene encodes a protein that interacts with fibroblast growth factor receptors (FGFRs), influencing their signaling pathways. MFRP is expressed in various tissues, including the eye, brain, and skin. Its involvement in eye development is particularly noteworthy, as mutations in this gene have been linked to severe eye conditions. Understanding the intricacies of MFRP and its interactions with FGFRs is vital for advancing research on eye diseases and developing effective therapeutic strategies.

Associated Diseases

• Microphthalmia (small eye)
• Anophthalmia (absence of eye)
• Coloboma (gap in the eye structure)
• Retinal dystrophies
• Corneal dystrophy
• Craniosynostosis (premature fusion of skull bones)
• Intellectual disability

Did you know?

Mutations in the MFRP gene can lead to a variety of eye abnormalities, including microphthalmia, anophthalmia, and coloboma. These conditions can affect vision and overall eye function, highlighting the critical role of MFRP in eye development.