Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily with single extracellular, transmembrane and cytoplasmic domains.

Functions

 Homotypic interactions between extracellular domains of MPZ adhere adjacent myelin wraps to each other.
 MPZ is also necessary for myelin compaction.
 Mice which lack MPZ develop severe dysmyelinating neuropathies in which compaction is dramatically disrupted.

Pathology

 MPZ mutations in inherited demyelinating neuropathy Charcot-Marie-Tooth disease Type 1B (CMT1B)
 MPZ mutations in Dejerine-Sottas disease

References

 Shy ME, Jani A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J. Phenotypic clustering in MPZ mutations. Brain. 2004 Feb;127(Pt 2):371-84. Epub 2004 Jan 07. PMID: #14711881#