GJB1
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Full Name
Gap Junction Protein Beta 1
Function
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Biological Process
Cell-cell signaling Source: GO_Central
Epididymis development Source: Ensembl
Gap junction assembly Source: Reactome
Nervous system development Source: ProtInc
Purine ribonucleotide transport Source: Ensembl
Epididymis development Source: Ensembl
Gap junction assembly Source: Reactome
Nervous system development Source: ProtInc
Purine ribonucleotide transport Source: Ensembl
Cellular Location
Cell membrane; Gap junction
Involvement in disease
Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1):
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.
Dejerine-Sottas syndrome (DSS):
A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.
Dejerine-Sottas syndrome (DSS):
A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Topology
Cytoplasmic: 1-22
Helical: 23-45
Extracellular: 46-75
Helical: 76-95
Cytoplasmic: 96-130
Helical: 131-153
Extracellular: 154-191
Helical: 192-214
Cytoplasmic: 215-283
Helical: 23-45
Extracellular: 46-75
Helical: 76-95
Cytoplasmic: 96-130
Helical: 131-153
Extracellular: 154-191
Helical: 192-214
Cytoplasmic: 215-283
View more
Anti-GJB1 antibodies
+ Filters
Loading...
CompareTarget: GJB1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat
Clone: CBYY-C3158
Application*: IF, IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: 3H8
Application*: E
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: 3G103
Application*: E, IF, IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: 10K172
Application*: IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Chicken, Mouse, Rat
Clone: 2A
Application*: IH, IF, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG
Specificity: Mouse
Clone: 1A
Application*: IH, IF, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Mouse, Rat
Clone: 5F9A9
Application*: IF, C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Mouse, Human, Rat
Clone: 3G104
Application*: IF, C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG
Specificity: Rat, Human, Mouse
Clone: 2Q252
Application*: C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Mouse
Clone: CBLG1-1201
Application*: IF, IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBLG1-1198
Application*: C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG
Specificity: Rat
Clone: CBLG1-1197
Application*: IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Mouse
Clone: CBLG1-1196
Application*: IF, IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Rat
Clone: CBLG1-1195
Application*: E, IF, C, WB
Target: GJB1
Host: Rat
Antibody Isotype: IgG2a
Specificity: Mouse
Clone: R5.21C
Application*: WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG
Specificity: Rat, Human
Clone: M12.13
Application*: WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CXN-32
Application*: E, C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 1F5
Application*: E
Target: GJB1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Mouse
Clone: CBLG1-107
Application*: IF, IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Rat
Clone: CBLG1-106
Application*: E, IF, IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBWJC-3725
Application*: E, C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: CBWJC-3724
Application*: E, IF, C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBWJC-2174
Application*: WB, F, IC, P
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Chicken, Human, Mouse, Rat
Clone: CBWJC-2173
Application*: IC, IF, C, P, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Mouse, Rat
Clone: CBYY-C3183
Application*: IF, C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Rat
Clone: CBFYH-3439
Application*: E, IF, C, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Rat
Clone: CBFYH-3438
Application*: E, IF, IH, WB
Target: GJB1
Host: Mouse
Antibody Isotype: IgG
Specificity: Rat
Clone: CBFYH-3366
Application*: IH, WB
More Infomation
Hot products 
-
Mouse Anti-EPO Recombinant Antibody (CBFYR0196) (CBMAB-R0196-FY)
-
Rabbit Anti-ABL1 (Phosphorylated Y245) Recombinant Antibody (V2-505716) (PTM-CBMAB-0465LY)
-
Mouse Anti-DES Monoclonal Antibody (440) (CBMAB-AP1857LY)
-
Mouse Anti-ABIN2 Recombinant Antibody (V2-179106) (CBMAB-A0349-YC)
-
Mouse Anti-AAV-5 Recombinant Antibody (V2-503417) (CBMAB-V208-1369-FY)
-
Mouse Anti-APP Recombinant Antibody (5C2A1) (CBMAB-A3314-YC)
-
Mouse Anti-ATG5 Recombinant Antibody (9H197) (CBMAB-A3945-YC)
-
Mouse Anti-AMOT Recombinant Antibody (CBYC-A564) (CBMAB-A2552-YC)
-
Mouse Anti-ABCA3 Recombinant Antibody (V2-178911) (CBMAB-A0145-YC)
-
Mouse Anti-BRCA2 Recombinant Antibody (CBYY-1728) (CBMAB-2077-YY)
-
Mouse Anti-AMACR Recombinant Antibody (CB34A) (CBMAB-CA034LY)
-
Mouse Anti-BAX Recombinant Antibody (CBYY-0216) (CBMAB-0217-YY)
-
Mouse Anti-CRYAB Recombinant Antibody (A4345) (CBMAB-A4345-YC)
-
Rabbit Anti-AKT3 Recombinant Antibody (V2-12567) (CBMAB-1057-CN)
-
Mouse Anti-C5b-9 Recombinant Antibody (aE11) (CBMAB-AO138LY)
-
Mouse Anti-F11R Recombinant Antibody (402) (CBMAB-0026-WJ)
-
Mouse Anti-CCDC6 Recombinant Antibody (CBXC-0106) (CBMAB-C5397-CQ)
-
Rabbit Anti-ATF4 Recombinant Antibody (D4B8) (CBMAB-A3872-YC)
-
Rabbit Anti-ADRA1A Recombinant Antibody (V2-12532) (CBMAB-1022-CN)
-
Mouse Anti-BrdU Recombinant Antibody (IIB5) (CBMAB-1038CQ)
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
Online Inquiry