Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:GAS3
Growth Arrest-Specific 3 |
| gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease_type_1A
Hereditary neuropathy with liability to pressure palsies |
| gptkbp:discoveredIn |
1992
|
| gptkbp:encodes |
gptkb:PMP22_protein
|
| gptkbp:Entrez_Gene_ID |
5376
|
| gptkbp:expressedIn |
Schwann cells
|
| gptkbp:fullName |
gptkb:Peripheral_Myelin_Protein_22
|
| gptkbp:function |
myelin sheath formation in peripheral nervous system
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
9107
|
| https://www.w3.org/2000/01/rdf-schema#label |
PMP22 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
gptkb:17p12 |
| gptkbp:mutationAssociatedWith |
demyelinating neuropathy
|
| gptkbp:OMIM |
601097
|
| gptkbp:orthologInMouse |
Pmp22
|
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:UniProtID |
P26523
|
| gptkbp:bfsParent |
gptkb:PMP22_protein
gptkb:PMP22 |
| gptkbp:bfsLayer |
7
|