Mouse Anti-GJA1 Recombinant Antibody (CBXC-1256) (CBMAB-C1523-CQ)

Mouse

Human

CBXC-1256

IgG2a

FC

NS0 transfected with human Connexin 43/GJA1, Accession # P17302

Human

IgG2a

Monoclonal

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Liquid

A saline solution containing BSA

Sodium azide

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

gap junction protein alpha 1

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations.

Gap Junction Protein Alpha 1; Gap Junction Protein, Alpha 1, 43kDa; Gap Junction 43 KDa Heart Protein; Connexin-43; CX43; GJAL; Gap Junction Protein, Alpha 1, 43kDa (Connexin 43); Oculodentodigital Dysplasia (Syndactyly Type III); Gap Junction Protein, Alpha-Like; Gap Junction Alpha-1 Protein;

Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity).

May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).

Apoptotic process Source: Ensembl
ATP transport Source: Ensembl
Atrial cardiac muscle cell action potential Source: BHF-UCL
Bone development Source: UniProtKB
Bone remodeling Source: UniProtKB
Cardiac conduction system development Source: BHF-UCL
Cell-cell signaling Source: BHF-UCL
Cell communication by electrical coupling Source: BHF-UCL
Cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
Cellular protein localization Source: ARUK-UCL
Cellular response to amyloid-beta Source: ARUK-UCL
Cellular response to mechanical stimulus Source: Ensembl
Cellular response to parathyroid hormone stimulus Source: Ensembl
Chronic inflammatory response Source: Ensembl
Decidualization Source: Ensembl
Endothelium development Source: Ensembl
Epididymis development Source: Ensembl
Establishment of mitotic spindle orientation Source: ARUK-UCL
Export across plasma membrane Source: ARUK-UCL
Gap junction assembly Source: UniProtKB
Glutamate secretion Source: ARUK-UCL
Ion transmembrane transport Source: BHF-UCL
Maintenance of blood-brain barrier Source: ARUK-UCL
Maintenance of protein localization in endoplasmic reticulum Source: Ensembl
Microtubule-based transport Source: UniProtKB
Negative regulation of cardiac muscle cell proliferation Source: Ensembl
Negative regulation of cell growth Source: UniProtKB
Negative regulation of DNA biosynthetic process Source: Ensembl
Negative regulation of endothelial cell proliferation Source: Ensembl
Negative regulation of gonadotropin secretion Source: ARUK-UCL
Negative regulation of trophoblast cell migration Source: ARUK-UCL
Negative regulation of wound healing Source: Ensembl
Neuron projection morphogenesis Source: Ensembl
Positive regulation of behavioral fear response Source: Ensembl
Positive regulation of cell communication by chemical coupling Source: Ensembl
Positive regulation of cold-induced thermogenesis Source: YuBioLab
Positive regulation of cytosolic calcium ion concentration Source: Ensembl
Positive regulation of gene expression Source: ARUK-UCL
Positive regulation of glomerular filtration Source: Ensembl
Positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
Positive regulation of insulin secretion Source: Ensembl
Positive regulation of mesodermal cell differentiation Source: ARUK-UCL
Positive regulation of morphogenesis of an epithelium Source: ARUK-UCL
Positive regulation of protein catabolic process Source: Ensembl
Positive regulation of stem cell proliferation Source: ARUK-UCL
Positive regulation of vascular associated smooth muscle cell proliferation Source: ARUK-UCL
Positive regulation of vasoconstriction Source: Ensembl
Regulation of apoptotic process Source: Ensembl
Regulation of bicellular tight junction assembly Source: Ensembl
Regulation of calcium ion transport Source: Ensembl
Regulation of cell communication by electrical coupling Source: Ensembl
Regulation of transmembrane transporter activity Source: Ensembl
Response to estradiol Source: Ensembl
Response to fluid shear stress Source: Ensembl
Response to glucose Source: Ensembl
Response to ischemia Source: Ensembl
Response to lipopolysaccharide Source: Ensembl
Response to peptide hormone Source: Ensembl
Response to pH Source: Ensembl
Response to retinoic acid Source: Ensembl
Signal transduction Source: BHF-UCL
Spermatogenesis Source: UniProtKB
Vascular transport Source: Ensembl
Vasodilation Source: Ensembl
Xenobiotic transport Source: ARUK-UCL

Endoplasmic reticulum; Cell membrane; Gap junction. Localizes at the intercalated disk (ICD) in cardiomyocytes and the proper localization at ICD is dependent on TMEM65.

Oculodentodigital dysplasia (ODDD):
A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.
Oculodentodigital dysplasia, autosomal recessive (ODDD-AR):
A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.
Syndactyly 3 (SDTY3):
A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.
Hypoplastic left heart syndrome 1 (HLHS1):
A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged.
Hallermann-Streiff syndrome (HSS):
A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.
Atrioventricular septal defect 3 (AVSD3):
A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
Craniometaphyseal dysplasia, autosomal recessive (CMDR):
An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.
Erythrokeratodermia variabilis et progressiva 3 (EKVP3):
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.
Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1):
A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients.

Cytoplasmic: 2-23
Helical: 24-44
Extracellular: 45-76
Helical: 77-97
Cytoplasmic: 98-155
Helical: 156-176
Extracellular: 177-207
Helical: 208-228
Cytoplasmic: 229-382

Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly. Phosphorylation at Ser-368 by PRKCD triggers its internalization into small vesicles leading to proteasome-mediated degradation (By similarity).
Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma membrane. May be desumoylated by SENP1 or SENP2.
S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel permeability and may regulate of smooth muscle cell to endothelial cell communication.
Acetylated in the developing cortex; leading to delocalization from the cell membrane.