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MIRAGE
peripheral myelin protein 22
Summary
- Gene Symbol
-
- PMP22
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cell membrane
- Charcot-Marie-Tooth disease
- Deafness
- Dejerine-Sottas syndrome
- Disease variant
- Glycoprotein
- Neurodegeneration
- Proteomics identification
- Reference proteome
- Transmembrane helix
- Ubl conjugation
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| apoptotic process | ||
| chemical synaptic transmission | ||
| peripheral nervous system development | ||
| negative regulation of cell population proliferation | ||
| negative regulation of neuron projection development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane | ||
| bicellular tight junction | ||
| compact myelin |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- peripheral myelin protein 22
- Functional Category
-
- L: Replication, recombination and repair
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| myelin assembly |
| InterPro |
|---|
| PMP-22/EMP/MP20/Claudin |
| PMP-22/EMP/MP20 |
Disease
- Disease Ontology
| 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 |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 5376 | Xenbase:XB-GENE-1004858 | ||
| 18858 | Xenbase:XB-GENE-1004858 | MOUSE04765 | |
| 24660 | Xenbase:XB-GENE-1004858 | RATNO02675 | |
| 479509 | CANLF15540 | ||
| 534497 | BOVIN12892 | ||
| 678607 | DANRE03659 | ||
| 693527 | MACMU14052 | ||
| 100020433 | MONDO09750 | ||
| 100034146 | HORSE03953 | ||
| 100302348 | SHEEP02832 |
