Peripheral myelin protein 22 (PMP22), also called Growth arrest-specific protein 3 (GAS-3), is a protein which in humans is encoded by the PMP22 gene. Mutations in PMP22 cause changes in the expression of peripheral myelin protein 22 which can result in several neuropathies.
PMP22 is a 22 kDa transmembrane glycoprotein made up of 160 amino acids, and is mainly expressed in the Schwann cells of the peripheral nervous system. Schwann cells show high expression of PMP22, where it can constitute 2-5% of total protein content in compact myelin. Compact myelin is the bulk of the peripheral neuron's myelin sheath, a protective fatty layer that provides electrical insulation for the neuronal axon.[5] The level of PMP22 expression is relatively low in the central nervous system of adults.[6]
Like other membrane proteins, newly translated PMP22 protein is temporarily sequestered to the endoplasmic reticulum (ER) and Golgi apparatus for post-translational modifications. PMP22 protein is glycosylated with an N terminus-linked sugar and co-localized with the chaperone protein calnexin in the ER.[7] After the protein is transported to the Golgi apparatus it can then become incorporated in the plasma membrane of the cell.[5]
^ abcGRCh38: Ensembl release 89: ENSG00000109099 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000018217 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abWatila MM, Balarabe SA (August 2015). "Molecular and clinical features of inherited neuropathies due to PMP22 duplication". Journal of the Neurological Sciences. 355 (1–2): 18–24. doi:10.1016/j.jns.2015.05.037. PMID 26076881. S2CID 40080925.
^Li J, Parker B, Martyn C, Natarajan C, Guo J (April 2013). "The PMP22 gene and its related diseases". Molecular Neurobiology. 47 (2): 673–698. doi:10.1007/s12035-012-8370-x. PMC 3594637. PMID 23224996.
^Dickson KM, Bergeron JJ, Shames I, Colby J, Nguyen DT, Chevet E, et al. (July 2002). "Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases". Proceedings of the National Academy of Sciences of the United States of America. 99 (15): 9852–9857. Bibcode:2002PNAS...99.9852D. doi:10.1073/pnas.152621799. PMC 125041. PMID 12119418.
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Myelin basic protein (MBP) is a protein believed to be important in the process of myelination of nerves in the nervous system. The myelin sheath is a...
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membrane protein 3 (EMP3) is a trans-membrane signaling molecule that is encoded by the myelin-related gene EMP3. EMP3 is a member of the peripheralmyelin protein...
Thomas DY, Snipes GJ (2002). "Association of calnexin with mutant peripheralmyelinprotein-22 ex vivo: a basis for "gain-of-function" ER diseases". Proc Natl...
1A, which may be caused by duplication of the gene encoding peripheralmyelinprotein22 (PMP22) on chromosome 17. Inversions: A portion of the chromosome...
reinnervation. Schwann cells are glial cells in the peripheral nervous system that support neurons by forming myelin that encases nerves. During Wallerian degeneration...
membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheralmyelinprotein22 gene family". Gene. 175 (1–2): 115–20. doi:10...
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