Membrane frizzled-related protein (MFRP) is a biologically significant protein encoded by the MFRP gene, primarily expressed in the retinal pigment epithelium (RPE) and the ciliary body of the eye. MFRP is a part of the frizzled family, which are integral membrane proteins that serve as receptors in the Wnt signaling pathway, a critical cascade in developmental processes and cellular communication.
MFRP's precise function is not entirely clear, but it is known to play a role in ocular development and maintenance. It is implicated in the regulation of eye size and refractive development, with mutations in the MFRP gene associated with conditions such as nanophthalmos, a disorder characterized by a small eye with a high risk of angle-closure glaucoma, and retinitis pigmentosa, a degenerative eye disease that leads to severe vision impairment.The protein's structure includes a cysteine-rich domain similar to that found in other frizzled receptors, suggesting it may bind to Wnt ligands or other signaling molecules to regulate cellular responses. MFRP also contains a C-terminal retinaldehyde-binding domain, indicating a role in the visual cycle or retinoid metabolism, which are vital for visual function.
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