Gap junction beta-1 protein (Gjb1) Recombinant Protein | Gjb1 recombinant protein

Recombinant Mouse Gap junction beta-1 protein (Gjb1)

• Gene Names: Gjb1; Cx32; Cnx32; Gjb-1; AI118175
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Gap junction beta-1 protein (Gjb1); Recombinant Mouse Gap junction beta-1 protein (Gjb1); Recombinant Gap junction beta-1 protein (Gjb1); Gap junction beta-1 protein; Connexin-32; Cx32; Gjb1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-283
• Sequence: MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDHFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC
• Sequence Length: 283

• Species: Mus musculus (Mouse)
• Preparation and Storage: Store at -20 degree C. For extended storage, store at -20 or -80 degree C.

NCBI and Uniprot Product Information

• NCBI GI #: 22165406
• NCBI GeneID: 14618
• NCBI Accession #: NP_032150.2
• NCBI GenBank Nucleotide #: NM_008124.2
• UniProt Accession #: P28230
• Molecular Weight: 32,004 Da
• NCBI Official Full Name: gap junction beta-1 protein
• NCBI Official Synonym Full Names: gap junction protein, beta 1
• NCBI Official Symbol: Gjb1
• NCBI Official Synonym Symbols: Cx32; Cnx32; Gjb-1; AI118175
• NCBI Protein Information: gap junction beta-1 protein; connexin 32; connexin-32; connexin-43; gap junction membrane channel protein beta 1
• UniProt Protein Name: Gap junction beta-1 protein
• Protein Family: Gap junction beta-1 protein
• UniProt Gene Name: Gjb1
• UniProt Synonym Gene Names: Cxn-32; Cx32
• UniProt Entry Name: CXB1_MOUSE

NCBI Description

This gene is a member of the gap junction protein (connexin) 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 ions and small molecules between cells. Mutations in a similar gene in human cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014]

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

Cellular Component: connexon complex; membrane; endoplasmic reticulum; cytoplasm; plasma membrane; integral to membrane; gap junction; cell junction

Molecular Function: protein homodimerization activity; gap junction channel activity

Biological Process: purine ribonucleotide transport; cell communication; transmembrane transport; protein oligomerization