Statements (25)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
|
gptkbp:alternativeName |
gptkb:GAS3
gptkb:Growth_Arrest-Specific_Protein_3 |
gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease_type_1A
gptkb:Hereditary_Neuropathy_with_Liability_to_Pressure_Palsies |
gptkbp:encodedBy |
gptkb:PMP22_gene
|
gptkbp:expressedIn |
peripheral nervous system
|
gptkbp:fullName |
gptkb:Peripheral_Myelin_Protein_22
|
gptkbp:function |
myelin sheath formation
peripheral nervous system maintenance |
gptkbp:gene |
gptkb:PMP22
|
gptkbp:HGNC_ID |
9107
|
https://www.w3.org/2000/01/rdf-schema#label |
PMP22
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_17
|
gptkbp:location |
gptkb:plasma_membrane
Schwann cells |
gptkbp:molecularWeight |
22 kDa
|
gptkbp:mutationAssociatedWith |
demyelinating neuropathy
|
gptkbp:OMIM |
601097
|
gptkbp:species |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
P26523
|
gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
gptkb:chromosome_17 gptkb:Schwann_cell |
gptkbp:bfsLayer |
6
|