Mouse anti-Human GJB1 Monoclonal Antibody | anti-GJB1 antibody

GJB1 (Gap Junction beta-1 Protein, Connexin-32, Cx32, GAP Junction 28kD Liver Protein, CX32) (FITC)

Cat. Num. AAA6147379

• Gene Names: GJB1; CMTX; CX32; CMTX1
• Reactivity: Human
• Applications: ELISA
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: GJB1; Monoclonal Antibody; GJB1 (Gap Junction beta-1 Protein; Connexin-32; Cx32; GAP Junction 28kD Liver Protein; CX32) (FITC); anti-GJB1 antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG1,k
• Clone Number: 1F5
• Specificity: Recognizes human GJB1.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Fluorescein isothiocyanate (FITC).
• Sequence Length: 1638

• Applicable Applications for anti-GJB1 antibody: ELISA (EIA)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Partial recombinant corresponding to aa75-174 from human GJB1 (AAH22426) with GST tag. MW of the GST tag alone is 26kD.
• Immunogen Sequence: RLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCP
• Conjugate: FITC
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: FITC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Testing Data

(Detection limit for recombinant GST tagged GJB1 is ~1ng/ml as a capture antibody.)

Related Product Information for anti-GJB1 antibody

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.

Product Categories/Family for anti-GJB1 antibody

Antibodies; Connexin; Junction Proteins

NCBI and Uniprot Product Information

• NCBI GI #: 18490872
• NCBI GeneID: 2705
• UniProt Accession #: P08034
• NCBI Official Full Name: Homo sapiens gap junction protein, beta 1, 32kDa, mRNA
• NCBI Official Synonym Full Names: gap junction protein beta 1
• NCBI Official Symbol: GJB1
• NCBI Official Synonym Symbols: CMTX; CX32; CMTX1
• NCBI Protein Information: gap junction beta-1 protein
• UniProt Protein Name: Gap junction beta-1 protein
• Protein Family: Gap junction beta-1 protein
• UniProt Gene Name: GJB1
• UniProt Synonym Gene Names: CX32; Cx32
• UniProt Entry Name: CXB1_HUMAN

NCBI Description

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]

Uniprot Description

GJB1: 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. Defects in GJB1 are the cause of Charcot-Marie-Tooth disease X-linked type 1 (CMTX1); also designated CMT- X. CMTX1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. 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. Defects in GJB1 may contribute to the phenotype of Dejerine-Sottas syndrome (DSS); also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is 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. Belongs to the connexin family. Beta-type (group I) subfamily.

Protein type: Channel, misc.; Motility/polarity/chemotaxis; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xq13.1

Cellular Component: connexon complex; endoplasmic reticulum membrane; integral to membrane

Molecular Function: protein homodimerization activity

Biological Process: nervous system development; cell-cell signaling; gap junction assembly; transport

Disease: Charcot-marie-tooth Disease, X-linked Dominant, 1