myelin protein zero
Última actualización 18 Aug 2020
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El MPZ gene provides instructions for making a protein called myelin protein zero. It is the most abundant protein in myelin, a protective substance that covers nerves and promotes the efficient transmission of nerve impulses. Myelin protein zero is produced by specialized cells called Schwann cells, which wrap around and insulate peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Myelin protein zero is required for the proper formation and maintenance of myelin. This protein is an adhesion molecule, which means it acts like molecular glue. It plays a role in tightly packing the myelin around nerve cells (myelin compaction).
Normal function
El MPZ gene provides instructions for making a protein called myelin protein zero. It is the most abundant protein in myelin, a protective substance that covers nerves and promotes the efficient transmission of nerve impulses. Myelin protein zero is produced by specialized cells called Schwann cells, which wrap around and insulate peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Myelin protein zero is required for the proper formation and maintenance of myelin. This protein is an adhesion molecule, which means it acts like molecular glue. It plays a role in tightly packing the myelin around nerve cells (myelin compaction).
Conditions referring to this gene or chromosome
Otros nombres
CMT1B
CMT2I
CMT2J
HMSN1B
MPP
myelin glycoprotein P-zero
myelin peripheral protein
myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
MYP0_HUMAN
P0 Glycoprotein
P0 Protein
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Lecturas adicionales y referencias
- myelin protein zero; MedlinePlus, National Library of Medicine.
- 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/
- Bremer J, Meinhardt A, Katona I, Senderek J, Kammerer-Gassler EK, Roos A, Ferbert A, Schroder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J. Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort. Brain Pathol. 2024 Jan;34(1):e13200. doi: 10.1111/bpa.13200. Epub 2023 Aug 15.
- Brennan KM, Bai Y, Shy ME. Demyelinating CMT--what's known, what's new and what's in store? Neurosci Lett. 2015 Jun 2;596:14-26. doi: 10.1016/j.neulet.2015.01.059. Epub 2015 Jan 24.
- Fridman V, Saporta MA. Mechanisms and Treatments in Demyelinating CMT. Neurotherapeutics. 2021 Oct;18(4):2236-2268. doi: 10.1007/s13311-021-01145-z. Epub 2021 Nov 8.
- Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet. 2008 Jul 1;17(13):1877-89. doi: 10.1093/hmg/ddn083. Epub 2008 Mar 12.
- Kochanski A. Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes. Acta Myol. 2004 May;23(1):6-9.
- Krokengen OC, Touma C, Mularski A, Sutinen A, Dunkel R, Ytterdal M, Raasakka A, Mertens HDT, Simonsen AC, Kursula P. The cytoplasmic tail of myelin protein zero induces morphological changes in lipid membranes. Biochim Biophys Acta Biomembr. 2024 Oct;1866(7):184368. doi: 10.1016/j.bbamem.2024.184368. Epub 2024 Jul 4.
- Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, Ciotti P, Manganelli F, Grandis M, Bellone E. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. Eur J Hum Genet. 2009 Sep;17(9):1129-34. doi: 10.1038/ejhg.2009.37. Epub 2009 Mar 18.
- Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci. 2006 Mar 15;242(1-2):55-66. doi: 10.1016/j.jns.2005.11.015. Epub 2006 Jan 18.
- Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep;17(3):451-60. doi: 10.1016/s0896-6273(00)80177-4.
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