Peripheral Myelin Protein 22

GPTKB entity

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	gptkb: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
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
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	Peripheral Myelin Protein 22