PMP2 Chromosome 8
Peripheral myelin protein 2
Upload your DNA to see your personal genotypes for variants in PMP2.
What This Gene Does
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. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
Fatty acid binding protein family
Locus Type
gene with protein product
Location
8q21.13
Ensembl
ENSG00000147588
Associated Conditions (5)
Inborn genetic diseases
Charcot-Marie-Tooth disease
demyelinating
type 1G
Peripheral neuropathy
Key Variants
RS369151184
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2487481768
Likely pathogenic
Charcot-Marie-Tooth disease, demyelinating, type 1G
Health Risk
RS879253869
Likely pathogenic
Peripheral neuropathy, Charcot-Marie-Tooth disease, demyelinating
Health Risk
RS1563518390
Pathogenic
Charcot-Marie-Tooth disease, demyelinating, type 1G
Health Risk
RS1563518388
Pathogenic/Likely pathogenic
Charcot-Marie-Tooth disease, demyelinating, type 1G
Health Risk
RS2129708244
Pathogenic/Likely pathogenic
Peripheral neuropathy, Charcot-Marie-Tooth disease, demyelinating
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369151184 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2487481768 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1G |
| RS879253869 | Health Risk | Likely pathogenic | Peripheral neuropathy, Charcot-Marie-Tooth disease, demyelinating |
| RS1563518390 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1G |
| RS1563518388 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1G |
| RS2129708244 | Health Risk | Pathogenic/Likely pathogenic | Peripheral neuropathy, Charcot-Marie-Tooth disease, demyelinating |