The CNPY1 gene is located on chromosome 7 in humans and is a protein-coding gene . The gene is highly conserved across different species, including zebrafish, mice, and humans . The protein encoded by this gene contains a domain known as the DUF3456 domain, which is involved in its regulatory functions .
CNPY1 is primarily involved in the FGF signaling pathway. FGF signaling is critical for numerous biological processes, including cell growth, differentiation, and tissue repair. CNPY1 acts as a regulator by binding to the FGF receptor 1 (FGFR1) and modulating its activity . This interaction is vital for maintaining the proper balance of FGF signaling, which is necessary for normal development and cellular homeostasis.
The regulation of FGF signaling by CNPY1 has significant implications for various developmental processes. For instance, it is expressed in the midbrain-hindbrain boundary in zebrafish, indicating its role in brain development . Additionally, CNPY1 has been associated with certain diseases, such as orofacial cleft 2 and infantile-onset distal myopathy, highlighting its importance in human health .
Research on CNPY1 has provided valuable insights into its function and potential therapeutic applications. The recombinant form of CNPY1, known as Human Recombinant Canopy FGF Signaling Regulator 1, is used in various experimental settings to study its role in FGF signaling and its potential as a therapeutic target. Understanding the mechanisms by which CNPY1 regulates FGF signaling can lead to the development of novel treatments for diseases associated with dysregulated FGF signaling.