PMP2

PMP2 localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy.

Full Name

Peripheral Myelin Protein 2

Function

May play a role in lipid transport protein in Schwann cells. May bind cholesterol.

Biological Process

Fatty acid transportManual Assertion Based On ExperimentIBA:GO_Central
Membrane organizationIEA:Ensembl

Cellular Location

Cytoplasm

Involvement in disease

Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G):
An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade.