P08034.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
32,025 Da
NCBI Official Full Name
Gap junction beta-1 protein
NCBI Official Synonym Full Names
gap junction protein, beta 1, 32kDa
NCBI Protein Information
gap junction beta-1 protein; connexin 32; connexin-32; GAP junction 28 kDa liver protein
UniProt Protein Name
Gap junction beta-1 protein
UniProt Synonym Protein Names
Connexin-32; Cx32; GAP junction 28 kDa liver protein
UniProt Synonym Gene Names
UniProt Entry Name
CXB1_HUMAN
NCBI Summary for GJB1
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 Comments for GJB1
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; Membrane protein, multi-pass; Membrane protein, integral; Channel, misc.
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; gap junction assembly; cell-cell signaling; transport
Disease: Charcot-marie-tooth Disease, X-linked Dominant, 1
Research Articles on GJB1
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Products associated with anti-GJB1 antibody
Pathways associated with anti-GJB1 antibody
Diseases associated with anti-GJB1 antibody
Disease Name |
Pubmed Publications |
Brain Diseases Antibodies |
>12 publications with GJB1 and Brain Diseases |
Charcot-Marie-Tooth disease, X-linked, 1 Antibodies |
>8 publications with GJB1 and Charcot-Marie-Tooth disease, X-linked, 1 |
Disease Models, Animal Antibodies |
>6 publications with GJB1 and Disease Models, Animal |
Edema Antibodies |
>2 publications with GJB1 and Edema |
Inflammation Antibodies |
>2 publications with GJB1 and Inflammation |
Infertility, Male Antibodies |
>1 publications with GJB1 and Infertility, Male |
Neoplasms, Experimental Antibodies |
>1 publications with GJB1 and Neoplasms, Experimental |
Urinary Bladder Neoplasms Antibodies |
>1 publications with GJB1 and Urinary Bladder Neoplasms |
Liver Diseases Antibodies |
>1 publications with GJB1 and Liver Diseases |
Fatty Liver Antibodies |
>1 publications with GJB1 and Fatty Liver |
Organs/Tissues associated with anti-GJB1 antibody
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