|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:connexin_32
gptkb:gap_junction_beta-1_protein
|
|
gptkbp:associatedWith
|
gptkb:Charcot-Marie-Tooth_disease_X-linked_type_1
|
|
gptkbp:biologicalProcess
|
myelination
cell-cell signaling
gap junction channel activity
|
|
gptkbp:discoveredBy
|
1993
|
|
gptkbp:encodes
|
gptkb:connexin_32
|
|
gptkbp:Entrez_Gene_ID
|
2705
|
|
gptkbp:expressedIn
|
gptkb:oligodendrocytes
Schwann cells
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:gene
|
gptkb:GJB1
|
|
gptkbp:HGNC_ID
|
HGNC:4284
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GJB1
|
|
gptkbp:inheritance
|
X-linked dominant
|
|
gptkbp:length
|
283 amino acids
|
|
gptkbp:locatedOnChromosome
|
Xq13.1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
peripheral neuropathy
frameshift
splice site
|
|
gptkbp:OMIM
|
304040
|
|
gptkbp:orthologInMouse
|
gptkb:Gjb1
|
|
gptkbp:proteinFamily
|
gptkb:connexins
|
|
gptkbp:related_disorder
|
gptkb:CMTX1
gptkb:hereditary_motor_and_sensory_neuropathy_X-linked
|
|
gptkbp:subcellularLocation
|
gptkb:gap_junction
gptkb:plasma_membrane
|
|
gptkbp:UniProtID
|
P08034
|
|
gptkbp:bfsParent
|
gptkb:Charcot-Marie-Tooth_disease
|
|
gptkbp:bfsLayer
|
6
|