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peripherin (medicine)


peripherin


1. Type III intermediate filament protein (57-58 kD) co expressed with neurofilament triplet proteins.

2. Photoreceptor specific glycoprotein found on the rim region of outer segment disk membranes. Thought to be essential for assembly, orientation and physical stability of outer segment disks. Predicted sequence 346 residues, highly conserved between rodents, man and cattle. Mutations in the gene (RDS gene: Retinal Degeneration, Slow) can cause retinitis pigmentosa or macular dystrophy.