This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. (provided by RefSeq)
Immunogen
PMP22 (AAH19040, 25 a.a. ~ 114 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Peripheral myelin protein 22 (PMP22) plays a vital role in myelination during peripheral nerve development. It also has a role in cell-cell interactions, cell proliferation, maintenance of axons and the determination of myelin thickness and stability. Aberrations or mutations in the PMP22 gene lead to heritable demyelinating peripheral neuropathies, such as Charcot-Marie-tooth disease type IA (CMT1A) and Dejerine-Sottas syndrome. Overexpression of PMP22 might contribute to the development of chronic myeloid leukemia (CML).
Knockdown of Peripheral Myelin Protein 22 Inhibits the Progression of Chronic Myeloid Leukemia.
Liu H
Oncology Research, 259(65), 259-265 (2014)
Many facets of the peripheral myelin protein PMP22 in myelination and disease.
Naef R and Suter U
Microscopy Research and Technique, 41(5), 359-371 (1998)
Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
Adlkofer K
Nature Genetics, 11(3), 274-280 (1995)
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Roa BB
Nature Genetics, 5(3), 269-273 (1993)
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