Download e-book for iPad: Charcot-Marie-Tooth Disease - A Bibliography and Dictionary by Philip M. Parker

By Philip M. Parker

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Charcot-Marie-Tooth Disease - A Bibliography and Dictionary by Philip M. Parker PDF

In March 2001, the nationwide Institutes of future health issued the next caution: "The variety of sites providing health-related assets grows each day. Many websites supply beneficial details, whereas others can have info that's unreliable or deceptive. " moreover, as a result of the speedy raise in Internet-based info, many hours may be wasted looking, making a choice on, and printing.

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Extra info for Charcot-Marie-Tooth Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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The PMP22 gene provides instructions for making a protein called peripheral myelin protein 22. This protein is a major component of myelin, a protective substance that covers nerves and promotes the efficient transmission of nerve impulses. Peripheral myelin protein 22 is produced primarily by specialized cells called Schwann cells, where the protein plays a crucial role in the development and maintenance of myelin. The PMP22 gene may also play a role in regulating cell division and maturation, cell shape, and cell death.

2003 Feb 1;12(3):349-56. Erratum in: Hum Mol Genet. 2004 Feb 1;13(3):363. PubMed citation • Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. ” SH3TC2 is the gene's official symbol. The SH3TC2 gene is also known by other names, listed below. What Is the Normal Function of the SH3TC2 Gene? The SH3TC2 gene is active in nervous tissue and provides instructions for making a protein whose function is unknown. Based on its structure, the SH3TC2 protein probably interacts with other proteins and may assist in assembling proteins into a group or complex.

Some MPZ mutations produce an abnormally small protein, which also affects interactions with other myelin components. If myelin's structure or its interactions are significantly altered, peripheral nerve cells cannot activate muscles used for movement or relay information from sensory cells back to the brain, causing the symptoms of type 1B Charcot-Marie-Tooth disease. Some MPZ mutations cause severe symptoms that begin during infancy or early childhood. ) Where Is the MPZ Gene Located? Cytogenetic Location: 1q22 Molecular Location on chromosome 1: base pairs 159,541,148 to 159,546,367 The MPZ gene is located on the long (q) arm of chromosome 1 at position 22.

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