Peripheral Myelin Protein 22

URI: https://gptkb.org/entity/Peripheral_Myelin_Protein_22
GPTKB entity
Statements (29)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkbp:alternativeName GAS-3
gptkbp:associatedWith gptkb:Charcot-Marie-Tooth_disease_type_1A
Hereditary neuropathy with liability to pressure palsies
gptkbp:cellularComponent gptkb:plasma_membrane
gptkbp:Entrez_Gene_ID ENSG00000109099
gptkbp:expressedIn Schwann cell
gptkbp:foundIn gptkb:Homo_sapiens
gptkbp:function myelin formation
maintenance of peripheral nerve myelin
gptkbp:gene gptkb:PMP22
gptkbp:geneType protein-coding
gptkbp:HGNC_ID 9121
https://www.w3.org/2000/01/rdf-schema#label Peripheral Myelin Protein 22
gptkbp:length 160 amino acids
gptkbp:locatedIn myelin sheath
gptkbp:locatedOnChromosome gptkb:chromosome_17p11.2
gptkbp:molecularWeight 22 kDa
gptkbp:mutationAssociatedWith demyelinating neuropathy
gptkbp:OMIM 601097
gptkbp:orthologInMouse Pmp22
gptkbp:postTranslationalModification glycosylation
gptkbp:RefSeq NP_000293.2
gptkbp:structure tetraspan membrane protein
gptkbp:subcellularLocation gptkb:cell_membrane
gptkbp:UniProtID P26523
gptkbp:bfsParent gptkb:PMP22_protein
gptkb:PMP22
gptkbp:bfsLayer 7