PMP22

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PMP22

A gene on chromosome 17p12 that encodes an integral membrane protein which is a major component of myelin in the peripheral nervous system, and appears to be involved in growth regulation and myelinisation of the peripheral nervous system.

Molecular pathology
PMP22 mutations are linked to Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome and hereditary neuropathy with liability to pressure palsies.
References in periodicals archive ?
PERP is a member of peripheral myelin protein 22/growth arrest specific 3 (PMP-22/gas3) family, which includes PMP-22 and the epithelial membrane proteins 1, 2, and 3 [8].
The predicted TM domains for the sea squirt PMP22-1 and PMP22-2 models align closely with the four TM domains predicted for human and frog PMP-22. All have a relatively large first extracellular loop.
(3) Zebrafish PMP-22 proteins were identified as 9th top hit (6e-08).
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease type 1A) to band 17p11.2 by direct R-banding fluorescence in situ hybridization.
A single PCR assay detects CMT1A duplications and HNPP deletions of PMP-22 gene [Abstract].
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.