peripherin1

Peripherin1 is a gene that encodes a protein belonging to the peripherin/rds protein family. This protein is a type II transmembrane protein, meaning it spans the cell membrane once with its N-terminus facing the cytoplasm and its C-terminus facing the extracellular space. Peripherin1 is primarily expressed in the nervous system, particularly in neurons, and plays a role in the development and maintenance of neuronal structure.

The peripherin/rds family of proteins are type II transmembrane proteins characterized by a conserved central coiled-coil domain. This domain is thought to be involved in protein-protein interactions and the formation of filament-like structures. Peripherin1 is believed to contribute to the structural integrity of axons and dendrites, the projections of neurons that transmit signals. It may also be involved in the regulation of membrane trafficking and ion channel function.

Mutations in the peripherin1 gene have been linked to certain neurodegenerative diseases, including some forms of hereditary neuropathy. These mutations can lead to protein misfolding and aggregation, disrupting normal neuronal function and leading to neuronal degeneration. Research into the precise functions of peripherin1 and the consequences of its dysfunction is ongoing, aiming to shed light on the mechanisms of neurodegeneration and to identify potential therapeutic targets.