Gene: PMP2

Alternate names for this Gene: CMT1G|FABP8|M-FABP|MP2|P2

Gene Summary: The protein encoded by this gene 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.13

Description of this Gene: peripheral myelin protein 2

Type of Gene: protein-coding

rs879253869 in PMP2 gene and CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G PMID 30249361 2018 Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

PMID 27009151 2016 De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

PMID 26828946 2016 A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

rs879253869 in PMP2 gene and Peripheral Neuropathy PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.