PMP22

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. [provided by RefSeq]

Full Name

peripheral myelin protein 22

Function

Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

Biological Process

Bleb assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Cell deathManual Assertion Based On ExperimentIDA:UniProtKB
Cell differentiationIEA:Ensembl
Chemical synaptic transmissionManual Assertion Based On ExperimentTAS:ProtInc
Myelin assemblyManual Assertion Based On ExperimentIBA:GO_Central
Negative regulation of cell population proliferationIEA:Ensembl
Negative regulation of neuron projection developmentIEA:Ensembl
Peripheral nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Cell membrane

Involvement in disease

Charcot-Marie-Tooth disease 1A (CMT1A):
A 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.
Dejerine-Sottas syndrome (DSS):
A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Hereditary neuropathy with liability to pressure palsies (HNPP):
A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas.
Charcot-Marie-Tooth disease 1E (CMT1E):
An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.
Inflammatory demyelinating polyneuropathy (IDP):
Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome.

Topology

Cytoplasmic: 1
Helical: 2-31
Extracellular: 32-64
Helical: 65-91
Cytoplasmic: 92-95
Helical: 96-119
Extracellular: 120-133
Helical: 134-156
Cytoplasmic: 157-160