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Mouse Anti-GJB6 Recombinant Antibody (CL4540) (CBMAB-G3581-LY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CL4540
Antibody Isotype
IgG2a
Application
ICC/IF

Basic Information

Specificity
Human
Antibody Isotype
IgG2a
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Gap Junction Protein Beta 6
Introduction
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
Entrez Gene ID
10804
UniProt ID
O95452
Alternative Names
Gap Junction Protein Beta 6; Ectodermal Dysplasia 2; Hidrotic (Clouston Syndrome); Gap Junction Protein; Beta 6; 30kDa; Connexin 30; CX30; Gap Junction Protein; Beta 6 (Connexin 30); Gap Junction Protein; Beta 6; Gap Junction Beta-6 Protein; Connexin-30;
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
Aging Source: Ensembl
Apoptotic process Source: Ensembl
Cell-cell signaling Source: GO_Central
Cellular response to glucose stimulus Source: Ensembl
Ear morphogenesis Source: Ensembl
Gap junction assembly Source: ARUK-UCL
Gap junction-mediated intercellular transport Source: ARUK-UCL
Inner ear development Source: Ensembl
Maintenance of blood-brain barrier Source: ARUK-UCL
Negative regulation of cell population proliferation Source: Ensembl
Response to electrical stimulus Source: Ensembl
Response to lipopolysaccharide Source: Ensembl
Sensory perception of sound Source: ProtInc
Sinoatrial node development Source: BHF-UCL
Transmembrane transport Source: ARUK-UCL
Cellular Location
Cell membrane; Gap junction
Involvement in disease
Ectodermal dysplasia 2, Clouston type (ECTD2):
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.
Deafness, autosomal recessive, 1B (DFNB1B):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Deafness, autosomal dominant, 3B (DFNA3B):
A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Topology
Cytoplasmic: 1-22
Helical: 23-45
Extracellular: 46-75
Helical: 76-98
Cytoplasmic: 99-131
Helical: 132-154
Extracellular: 155-192
Helical: 193-215
Cytoplasmic: 216-261
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For research use only. Not intended for any clinical use.

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