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. Note: This description may include information from UniProtKB.
Protein type: Channel, misc.; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1p34.3
Cellular Component:  cell junction; connexin complex; cytoplasm; gap junction; integral component of membrane; intracellular membrane-bounded organelle
Molecular Function:  gap junction channel activity
Biological Process:  cell communication; cellular response to retinoic acid; in utero embryonic development; placenta development; skin development; spermatogenesis; transmembrane transport
Disease: Deafness, Autosomal Dominant 2b; Deafness, Autosomal Recessive 1a; Erythrokeratodermia Variabilis Et Progressiva
Reference #:  O75712 (UniProtKB)
Alt. Names/Synonyms: connexin 31; Connexin-31; CX31; CXB3; DFNA2; DFNA2B; EKV; FLJ22486; Gap junction beta-3 protein; gap junction protein, beta 3, 31kDa; GJB3; MGC102938
Gene Symbols: GJB3
Molecular weight: 30,818 Da
Basal Isoelectric point: 8.94  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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