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Peripheral myelin protein 22 - Wikipedia
https://en.wikipedia.org/wiki/Peripheral_myelin_protein_22
WEBPeripheral 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 …
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PMP22 gene: MedlinePlus Genetics
https://medlineplus.gov/genetics/gene/pmp22/
WEBThe 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.
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The PMP22 Gene and Its Related Diseases - PMC - National …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594637/
WEBCMT carries a prevalence of one in 2,500 people ( Skre, 1974) and mutations of PMP22 are responsible for >50% cases of CMT. These PMP22 related diseases disrupt the organization of myelin, and subsequently axonal integrity, which is responsible for the disabilities in patients with PMP22 mutations.
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The PMP22 gene and its related diseases - PubMed
https://pubmed.ncbi.nlm.nih.gov/23224996/
WEBAbstract. Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neuropathies, including Charcot-Marie ...
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PMP22 Gene - GeneCards | PMP22 Protein | PMP22 Antibody
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PMP22
WEBApr 3, 2024 · PMP22 (Peripheral Myelin Protein 22) is a Protein Coding gene. Diseases associated with PMP22 include Hypertrophic Neuropathy Of Dejerine-Sottas and Neuropathy, Hereditary, With Liability To Pressure Palsies .
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PMP22 peripheral myelin protein 22 [ (human)] - National Center …
https://www.ncbi.nlm.nih.gov/gene/5376
WEBPMP22 peripheral myelin protein 22 [ (human)] Gene ID: 5376, updated on 5-Mar-2024. Summary. This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression.
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Entry - *601097 - PERIPHERAL MYELIN PROTEIN 22; PMP22
https://www.omim.org/entry/601097
WEBThe PMP22 gene encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin. It is produced primarily by Schwann cells and expressed in the compact portion of essentially all myelinated fibers in the peripheral nervous system ( Snipes et al., 1992 ). Cloning and Expression.
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Peripheral Myelin Protein 22 - an overview | ScienceDirect Topics
https://www.sciencedirect.com/topics/neuroscience/peripheral-myelin-protein-22
WEBPMP22 is a tetraspan membrane glycoprotein that regulates the initiation of myelination, as well as determination of myelin thickness, and is essential for the maintenance of myelin and axonal integrity.
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AAV2/9-mediated silencing of PMP22 prevents the development of ... - Nature
https://www.nature.com/articles/s41467-021-22593-3
WEBApr 21, 2021 · Nature Communications - Charcot-Marie-Tooth disease 1 A (CMT1A) results from PMP22 gene duplication and is characterized by peripheral nerve myelination deficits. Here, the authors prevent...
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Downregulation of the human peripheral myelin protein 22 gene …
https://www.nature.com/articles/s41434-019-0098-z
WEBAug 27, 2019 · PMP22 comprises 2–5% of the proteins in peripheral nerve myelin and is critical for membrane ultrastructure [ 7 ]. Overproduction of PMP22, such as in nerves of CMT1A patients, leads to...
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