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. 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 results in multiple transcript variants. [provided by RefSeq, Jul 2013]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PMP22-20-RE | 20 (40 μL) | 200 μL |  |
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| PMP22-20-OR | 20 (40 μL) | 200 μL |  |
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| PMP22-20-GO | 20 (40 μL) | 200 μL |  |
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| PMP22-20-GR | 20 (40 μL) | 200 μL |  |
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| PMP22-20-AQ | 20 (40 μL) | 200 μL |  |
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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. 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 results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Symbol : PMP22
Gene Name : Peripheral myelin protein 22
Chromosome : CHR 17: 152,653,56-152,297,76
Locus : 17p12
Alt. Genes : OPTN
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