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Glycan Structure Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
Peripheral myelin protein 22
Summary
- UniProt ID
- Q01453
- Gene Symbol
-
- GAS3
- PMP22
- Gene ID
- 5376
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cell membrane
- Charcot-Marie-Tooth disease
- Deafness
- Dejerine-Sottas syndrome
- Disease variant
- Glycoprotein
- Neurodegeneration
- Reference proteome
- Transmembrane helix
- Ubl conjugation
- Gene Ontology (GO)
| GO Term |
|---|
| bicellular tight junction |
| compact myelin |
| plasma membrane |
| synapse |
Sequence
MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 41 | N-linked (GlcNAc...) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| EGR2 and SOX10-mediated initiation of Schwann cell myelination | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050540 | Charcot-Marie-Tooth disease type 3 | |
| DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
| DOID:0110148 | Charcot-Marie-Tooth disease type 1A | |
| DOID:0110153 | Charcot-Marie-Tooth disease type 1E | |
| DOID:10595 | Charcot-Marie-Tooth disease | |
| DOID:12842 | Guillain-Barre syndrome |
