Molecular genetic studies have shown that the peripheral myelin protein 22 (PMP22) is a key gene in hereditary peripheral neuropathies and appears to be essential for the formation and maintenance of myelin in the PNS. Based on the amino acid sequence the predicted structure of PMP22 protein contain
Membrane topology of peripheral myelin protein 22
β Scribed by Verdon Taylor; Corinne Zgraggen; Roland Naef; Ueli Suter
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 310 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0360-4012
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Peripheral myelin protein 22 (PMP22) is a small, hydrophobic glycoprotein, which is most prominently expressed by Schwann cells as a component of compact myelin of the peripheral nervous system (PNS). Recent progress in molecular genetics revealed that mutations affecting the PMP22 gene including du
The peripheral myelin protein PMP22 gene has been described as a growth arrest-specific gene gas3 and has been identified as disease gene of various demyelinating neuropathies. The gene consists of two highly conserved alternative noncoding 5'-exons la (CD25) and 1b (SR13), respectively. Differentia
Peripheral nerves of mutant mice deficient for peripheral myelin protein 22 (PMP22) or connexin32 (Cx32) display similar pathologies as observed in hereditary human peripheral neuropathies. Mice lacking PMP22 develop focal hypermyelination followed by myelin degeneration and axonal atrophy. Cx32-def
Peripheral myelin protein 22 (PMP22) is a component of compact myelin of the peripheral nervous system (PNS). Mutations affecting PMP22 are associated with hereditary neuropathies in humans and rodents. Although mammalian PMP22 is expressed in several tissues, the disease pathology is restricted to
It has been demonstrated that abnormal levels of PMP22 expression due to altered gene dosage in CMT1A neuropathy alters Schwann cell growth and differentiation. On the other hand, disease-related missense mutations within transmembrane domains of PMP22 disturb intracellular protein trafficking leadi