PMP2


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PMP2

A gene on chromosome 8q21.3-q22.1 that encodes peripheral myelin protein 2, which is thought to bind cholesterol and play a role in lipid transport in Schwann cells.
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In addition, we identified two SH3TC2 variants such as c.512G>A and c.1402G>T, four PMP2 variants such as c.186A>G, c.349-30G>C, c.*12T>C, and c.*115T>C, and one BSCL2 variant c.55G>A.
To date, three PMP2 pathogenic variants were identified around the world.[5],[6],[7] The PMP2 pathogenic variant p.I43N was recently identified to cause typical AD-CMT1 phenotype in forty American CMT individuals.[5] The same PMP2 variant was reported in a Korean CMT1 family.[6] Subsequently, the PMP2 pathogenic variants such as p.I52T and p.T51P were identified in a cohort of 136 European probands.[7] Our study identified no PMP2 pathogenic variants in 315 unrelated Chinese CMT families.
Caption: Figure 4: Relative expression of pmp2, pmp22, and mpz mRNA in the area of SCI in rats of the experimental groups.