gap junction protein beta 1
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L GJB1 gene provides instructions for making a protein called connexin-32 (also known as gap junction beta 1). This protein is a member of the gap junction connexin family, which plays a role in cell communication by forming channels, or gap junctions, between cells. Gap junctions speed the transport of nutrients, charged particles (ions), and small molecules that carry communication signals between cells.
Normal function
L GJB1 gene provides instructions for making a protein called connexin-32 (also known as gap junction beta 1). This protein is a member of the gap junction connexin family, which plays a role in cell communication by forming channels, or gap junctions, between cells. Gap junctions speed the transport of nutrients, charged particles (ions), and small molecules that carry communication signals between cells.
The connexin-32 protein is made in several tissues, including those of the liver, pancreas, kidney, and nervous system. In the nervous system, this protein is located in the cell membrane of specialized cells called Schwann cells and oligodendrocytes. Schwann cells are found in the peripheral nervous system, which consists of nerves connecting the brain and spinal cord (central nervous system) to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Oligodendrocytes are located in the central nervous system.
Schwann cells and oligodendrocytes surround nerves and are involved in the production and long-term maintenance of a fatty substance called myelin. Myelin forms a protective coating (or sheath) around certain nerve cells that ensures the smooth and rapid transmission of nerve impulses.
The connexin-32 protein forms channels through the myelin sheath, allowing efficient transport and communication between the outer myelin layers and the interior of the Schwann cell or oligodendrocyte.
Conditions referring to this gene or chromosome
Altri nomi
CMTX
CMTX1
connexin 32
CX32
CXB1_HUMAN
gap junction protein, beta 1, 32kDa
gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
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Ulteriori letture e riferimenti
- gap junction protein beta 1; MedlinePlus, National Library of Medicine.
- Abrams CK, Freidin M. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. Cell Tissue Res. 2015 Jun;360(3):659-73. doi: 10.1007/s00441-014-2014-6. Epub 2014 Nov 5.
- Abrams CK. GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. 1998 Jun 18 [updated 2024 Apr 25]. 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/NBK1374/
- 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.
- Kleopa KA, Sargiannidou I. Connexins, gap junctions and peripheral neuropathy. Neurosci Lett. 2015 Jun 2;596:27-32. doi: 10.1016/j.neulet.2014.10.033. Epub 2014 Oct 24.
- Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium-Rare Disease Clinical Research Network. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187.
- Ressot C, Bruzzone R. Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease. Brain Res Brain Res Rev. 2000 Apr;32(1):192-202. doi: 10.1016/s0165-0173(99)00081-8.
- Sargiannidou I, Markoullis K, Kleopa KA. Molecular mechanisms of gap junction mutations in myelinating cells. Histol Histopathol. 2010 Sep;25(9):1191-206. doi: 10.14670/HH-25.1191.
- Sargiannidou I, Vavlitou N, Aristodemou S, Hadjisavvas A, Kyriacou K, Scherer SS, Kleopa KA. Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects. J Neurosci. 2009 Apr 15;29(15):4736-49. doi: 10.1523/JNEUROSCI.0325-09.2009.
- Scherer SS, Kleopa KA. X-linked Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2012 Dec;17 Suppl 3(0 3):9-13. doi: 10.1111/j.1529-8027.2012.00424.x.
- Wang HL, Chang WT, Yeh TH, Wu T, Chen MS, Wu CY. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease. Neurobiol Dis. 2004 Mar;15(2):361-70. doi: 10.1016/j.nbd.2003.11.005.
- Wang Y, Yin F. A Review of X-linked Charcot-Marie-Tooth Disease. J Child Neurol. 2016 May;31(6):761-72. doi: 10.1177/0883073815604227. Epub 2015 Sep 18.
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