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PMP22 is a major component of myelin expressed in the compact portion of essentially all myelinated fibers in the peripheral nervous system and is produced predominantly by Schwann cells. Studies in injured nerve suggested a role during Schwann cell growth and differentiation. PMP22 is expressed in cranial nerves but not in the mature central nervous system. Studies suggest a possible role of the PMP22 gene in the development of neoplasia in patients with neurofibromatosis and in the myelin degenerative Charcot-Marie-Tooth disease linked to chromosome 17p.
Gene Name: | peripheral myelin protein 22 |
Synonyms: | PMP22, CMT1E, DSS, GAS-3, GAS3, Growth arrest-specific 3, HMSNIA, PMP-22, CMT1A, HNPP, Peripheral myelin protein 22 |
Target Sequences: | NM_000304 NP_000295.1 Q01453 |
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