peripheral myelin protein 22
Zuletzt aktualisiert 19 Apr 2023
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Der PMP22 gene provides instructions for making a protein called peripheral myelin protein 22 (PMP22). This protein is found in the peripheral nervous system, which connects the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
Normal function
Der PMP22 gene provides instructions for making a protein called peripheral myelin protein 22 (PMP22). This protein is found in the peripheral nervous system, which connects the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
The PMP22 protein is a component of myelin, a protective substance that covers nerves and promotes the efficient transmission of nerve impulses. The protein is produced primarily by specialized cells called Schwann cells that wrap around and insulate nerves. Within Schwann cells, PMP22 plays a crucial role in the development and maintenance of myelin. Studies suggest that the PMP22 protein is particularly important in protecting nerves from physical pressure, helping them restore their structure after being pinched or squeezed (compressed). Compression can interrupt nerve signaling, leading to the sensation commonly referred to as a limb "falling asleep." The ability of nerves to recover from normal, day-to-day compression, for example when sitting for long periods, keeps the limbs from constantly losing sensation. The PMP22 gene also plays a role in the growth of Schwann cells and the process by which cells mature to carry out specific functions (differentiation).
Before they become part of myelin, newly produced PMP22 proteins are processed and packaged in specialized cell structures called the endoplasmic reticulum and the Golgi apparatus. Completion of these processing and packaging steps is critical for proper myelin function.
Conditions referring to this gene or chromosome
Other names
GAS-3
GAS3
growth arrest-specific 3
HNPP
MGC20769
PMP22_HUMAN
Sp110
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Weiterführende Lektüre und Referenzen
- peripheral myelin protein 22; MedlinePlus, National Library of Medicine.
- Bai Y, Zhang X, Katona I, Saporta MA, Shy ME, O'Malley HA, Isom LL, Suter U, Li J. Conduction block in PMP22 deficiency. J Neurosci. 2010 Jan 13;30(2):600-8. doi: 10.1523/JNEUROSCI.4264-09.2010.
- Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2025 Nov 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1358/
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- Guo J, Wang L, Zhang Y, Wu J, Arpag S, Hu B, Imhof BA, Tian X, Carter BD, Suter U, Li J. Abnormal junctions and permeability of myelin in PMP22-deficient nerves. Ann Neurol. 2014 Feb;75(2):255-65. doi: 10.1002/ana.24086. Epub 2014 Feb 20.
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- Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain. 2009 Jul;132(Pt 7):1734-40. doi: 10.1093/brain/awp113. Epub 2009 May 15.
- Niedrist D, Joncourt F, Matyas G, Muller A. Severe phenotype with cis-acting heterozygous PMP22 mutations. Clin Genet. 2009 Mar;75(3):286-9. doi: 10.1111/j.1399-0004.2008.01120.x. Epub 2008 Nov 29.
- Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. doi: 10.1385/nmm:8:1-2:217.
- Rosso G, Liashkovich I, Gess B, Young P, Kun A, Shahin V. Unravelling crucial biomechanical resilience of myelinated peripheral nerve fibres provided by the Schwann cell basal lamina and PMP22. Sci Rep. 2014 Dec 2;4:7286. doi: 10.1038/srep07286.
- Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol. 2013 Oct;9(10):562-71. doi: 10.1038/nrneurol.2013.179. Epub 2013 Sep 10.
- Stavrou M, Kleopa KA. CMT1A current gene therapy approaches and promising biomarkers. Neural Regen Res. 2023 Jul;18(7):1434-1440. doi: 10.4103/1673-5374.361538.
- Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 5;97(5):691-707. doi: 10.1016/j.ajhg.2015.10.003.
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19 Apr 2023 | Neueste Version
1 Oct 2018 | Ursprünglich veröffentlicht
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