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gptkbp:instanceOf
|
gptkb:gene
|
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gptkbp:alternativeName
|
gptkb:connexin_32
gptkb:gap_junction_beta-1_protein
Cx32
|
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gptkbp:associatedWith
|
Charcot-Marie-Tooth disease X-linked type 1 (CMTX1)
GJB2
GJB3
GJB6
|
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gptkbp:clinicalTrialPhase
|
genetic testing for CMTX1
|
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gptkbp:database
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gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:UniProt
gptkb:Ensembl
|
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gptkbp:discoveredBy
|
Bergoffen et al.
|
|
gptkbp:discoveredIn
|
1993
|
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gptkbp:encodes
|
gptkb:connexin_32
|
|
gptkbp:Entrez_Gene_ID
|
2705
|
|
gptkbp:expressedIn
|
central nervous system
liver
Schwann cells
|
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gptkbp:function
|
cell-cell communication
forms gap junction channels
|
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gptkbp:gene
|
gptkb:GJB1
|
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gptkbp:geneType
|
protein-coding
|
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gptkbp:hasTranscriptVariant
|
multiple
|
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gptkbp:HGNC_ID
|
HGNC:4284
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GJB1 gene
|
|
gptkbp:inheritsFrom
|
X-linked dominant
|
|
gptkbp:length
|
283 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:X_chromosome
Xq13.1
|
|
gptkbp:locusType
|
Xq13.1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
peripheral neuropathy
frameshift
splice site
|
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gptkbp:OMIM
|
304040
|
|
gptkbp:orthologInMouse
|
gptkb:Gjb1
|
|
gptkbp:pathogenicVariant
|
p.Arg15Gln
p.Arg164Trp
p.Phe235Leu
p.Val139Met
|
|
gptkbp:proteinFamily
|
gptkb:connexins
four transmembrane domains
cytoplasmic N- and C-termini
one intracellular loop
two extracellular loops
|
|
gptkbp:UniProtID
|
P08034
|
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gptkbp:bfsParent
|
gptkb:NM_000218
|
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gptkbp:bfsLayer
|
7
|