GJB4
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment.
Full Name
gap junction protein, beta 4, 30.3kDa
Function
Structural component of gap junctions (By similarity).
Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity).
Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity).
Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity).
Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity).
Biological Process
Cell-cell signaling Source: UniProtKB
Gap junction-mediated intercellular transport Source: UniProtKB
Olfactory behavior Source: Ensembl
Sensory perception of smell Source: Ensembl
Gap junction-mediated intercellular transport Source: UniProtKB
Olfactory behavior Source: Ensembl
Sensory perception of smell Source: Ensembl
Cellular Location
Cell membrane; Gap junction. Colocalizes with GJB2 at gap junction plaques in the cochlea.
Involvement in disease
Erythrokeratodermia variabilis et progressiva 2 (EKVP2):
A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
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Anti-GJB4 antibodies
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CompareTarget: GJB4
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBLG1-1207
Application*: SE, E, WB
Target: GJB4
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYH-0367
Application*: E, EC, WB
Target: GJB4
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYH-0366
Application*: E, WB
Target: GJB4
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYH-0367
Application*: E, WB, IP
Target: GJB4
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYH-0366
Application*: E, WB
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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
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