Anti-PMP22 antibody [CF1]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The 'PMP22 protein' also known as Peripheral Myelin Protein 22 is an essential component of the myelin sheath in the peripheral nervous system. It has a molecular weight of approximately 22 kDa. The protein is highly expressed in Schwann cells which are responsible for forming myelin around peripheral nerves. PMP22 contains four transmembrane domains playing a role in its structural function in the membrane.

Biological function summary

The 'PMP22' serves an important role in maintaining the integrity and functionality of the myelin sheath contributing to efficient nerve conduction. It is not typically part of a complex but interacts with other myelin proteins to support myelin compaction and stability. The protein's presence affects the cell cycle and myelination process important for the normal functioning of the peripheral nervous system.

Pathways

'PMP22 protein' plays roles in the Schwann cell differentiation and myelination pathways. It maintains correct peripheral nerve structure and function with connections to proteins such as MPZ (Myelin Protein Zero) which are also integral for proper nerve insulation. There are specific pathways where PMP22 downregulation or overexpression impacts the normal myelination cycle significant for peripheral nerve health.

Associated diseases and disorders

'PMP 22' mutations or overexpression relate to Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). These conditions arise from gene dosage changes affecting nerve function where altered PMP22 protein levels lead to defective myelin formation. Interaction between PMP22 and proteins like connexin 32 shows further ties to demyelinating neuropathies emphasizing the gene-protein network involved in these disorders.