AAD11816.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
30,818 Da
NCBI Official Full Name
connexin 31
NCBI Official Synonym Full Names
gap junction protein beta 3
NCBI Protein Information
gap junction beta-3 protein
UniProt Protein Name
Gap junction beta-3 protein
UniProt Synonym Protein Names
Connexin-31; Cx31
UniProt Synonym Gene Names
NCBI Summary for CX31
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. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
UniProt Comments for CX31
GJB3: 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 GJB3 are a cause of erythrokeratodermia variabilis (EKV). EKV is a genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches 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. Defects in GJB3 are the cause of deafness autosomal dominant type 2B (DFNA2B). DFNA2 is a form of 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. Belongs to the connexin family. Beta-type (group I) subfamily.
Protein type: Channel, misc.; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1p34.3
Disease: Deafness, Autosomal Dominant 2b; Deafness, Autosomal Recessive 1a; Erythrokeratodermia Variabilis Et Progressiva
Research Articles on CX31
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Products associated with anti-CX31 antibody
Pathways associated with anti-CX31 antibody
Diseases associated with anti-CX31 antibody
Organs/Tissues associated with anti-CX31 antibody
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