Family

Peripheral myelin protein PMP22 (IPR003936)

Short name: PMP22

Family relationships

Description

The epithelial membrane proteins (EMP-1, -2 and -3), peripheral myelin protein 22 (PMP22), and lens fibre membrane intrinsic protein (LMIP) comprise a protein family on the basis of sequence and structural similarities [PMID: 7499407]. Each family member is a small hydrophobic membrane glycoprotein, ~160-170 amino acids in length, and shares a common predicted transmembrane (TM) topology of 4 TM domains, with intracellular N- and C-termini [PMID: 8884260].

PMP22, also termed growth-arrest specific protein (GAS3), is a structural component of compact myelin in the peripheral nervous system. Aberrant expression of the PMP22 gene, and mutations in the protein, are associated with a variety of hereditary peripheral motor and sensory neuropathies [PMID: 7680499]. An intra-chromosomal duplication containing the PMP22 gene is found in the majority of patients suffering from the autosomal dominant demyelinating neuropathy Charcot-Marie-Tooth disease 1A (CMT1A) [PMID: 7605070]. In addition, rare point mutations in PMP22 have been found in non-duplication CMT1A patients and in the severe congenital peripheral neuropathy Dejerine-Sottas syndrome [PMID: 8275092].

PMP22 is also implicated in the control of cell proliferation. Its expression levels are up-regulated in cells undergoing growth arrest [PMID: 7499407], and it has been shown that modulating PMP22 levels in cultured Schwann cells exerts a profound effect on the length of the G1 phase of the cell cycle [PMID: 7720703]. It has also been demonstrated that over-expression of PMP22 in NIH 3T3 fibroblast cells induces apoptosis [PMID: 7649472].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0016020 membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PRINTS