- The gene for the peripheral myelin protein PMP|22 is a ...🔍
- Gene ResultPMP22 peripheral myelin protein 22 [ 🔍
- The gene for the peripheral myelin protein PMP–22 is a candidate ...🔍
- Peripheral Myelin Protein 22🔍
- Peripheral myelin protein 22🔍
- The peripheral myelin protein gene PMP–22 is contained ...🔍
- Inherited demyelinating neuropathies with micromutations of ...🔍
- Gene dosage effects in hereditary peripheral neuropathy🔍
The gene for the peripheral myelin protein PMP|22 is a ...
The gene for the peripheral myelin protein PMP-22 is a ... - PubMed
Recently, the peripheral myelin gene Pmp-22 was found to carry a point mutation in Tr mice. We have isolated cDNA and genomic clones for human PMP-22. The gene ...
Gene ResultPMP22 peripheral myelin protein 22 [ (human)] - NCBI
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system.
PMP22 gene: MedlinePlus Genetics
The PMP22 gene provides instructions for making a protein called peripheral myelin protein 22 (PMP22). This protein is found in the peripheral nervous system.
The gene for the peripheral myelin protein PMP–22 is a candidate ...
We suggest that a gene dosage effect involving PMP–22 is at least partially responsible for the demyelinating neuropathy seen in CMT1A.
Peripheral Myelin Protein 22 - an overview | ScienceDirect Topics
It is encoded by the PMP22 gene located on chromosome 17 and is expressed in various tissues beyond the peripheral nervous system. AI generated definition based ...
Peripheral myelin protein 22 - Wikipedia
Peripheral myelin protein 22 (PMP22), also called Growth arrest-specific protein 3 (GAS-3), is a protein which in humans is encoded by the PMP22 gene.
The peripheral myelin protein gene PMP–22 is contained ... - Nature
We now report that the human PMP–22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP–22 gene may be the ...
The PMP22 gene provides instructions for making a protein called peripheral myelin protein 22 (PMP22). This protein is found in the ...
Peripheral myelin protein 22 - Homo sapiens (Human) | UniProtKB
A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy.
Peripheral Myelin Protein 22 - an overview | ScienceDirect Topics
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy. It results from the duplication of a region of chromosome 17 ...
Inherited demyelinating neuropathies with micromutations of ...
The peripheral myelin protein 22 gene (PMP22) encodes an intrinsic membrane protein of compact myelin. Duplication or deletion of PMP22 causes ...
Entry - *601097 - PERIPHERAL MYELIN PROTEIN 22; PMP22 - OMIM
The PMP22 gene encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin. It is produced primarily by Schwann cells.
Gene dosage effects in hereditary peripheral neuropathy | Neurology
A duplication of a 1.5-Megabase genomic region encompassing the gene for the peripheral myelin protein 22 (PMP22) is found on chromosome 17p11.2-12 in ...
Peripheral myelin protein 22 alters membrane architecture - Science
Peripheral myelin protein 22 (PMP22) is highly expressed in myelinating Schwann cells of the peripheral nervous system. PMP22 genetic ...
A novel point mutation in the peripheral myelin protein 22 (PMP22 ...
We report a novel PMP22 point mutation in a large Sardinian family with a dominant CMT1A disease, resulting in a valine to glycine substitution at codon 107.
Elevated expression of messenger RNA for peripheral myelin ...
The human peripheral myelin protein 22 (PMP-22) gene has been mapped to chromosome 17p11.2 in the duplicated region associated with Charcot-Marie-Tooth ...
PMP22 Gene - Peripheral Myelin Protein 22 - GeneCards
PMP22 (Peripheral Myelin Protein 22) is a Protein Coding gene. Diseases associated with PMP22 include Neuropathy, Hereditary, With Liability To Pressure Palsies ...
PMP22 - peripheral myelin protein 22 - WikiGenes
Peripheral myelin protein 22 (PMP22) is expressed by Schwann cells in the peripheral nervous system (PNS), and mutations affecting the PMP22 gene are associated ...
Phenotypic Differences between Peripheral Myelin Protein-22 ...
Mutations in the genes for peripheral myelin protein-22 (PMP22) and myelin protein zero (P 0 ) cause human hereditary neuropathies with varying clinical and ...
Peripheral myelin protein PMP22 (IPR003936) - InterPro entry
PMP22, also termed growth-arrest specific protein (GAS3), is a structural component of compact myelin in the peripheral nervous system.