Connexin 31 (CX31) Antibody – Rabbit Polyclonal

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: 4 D2.2|4 61.48 cM

Cellular Component: cell junction; connexin complex; cytoplasm; gap junction; integral component of membrane; intercellular junction; intracellular membrane-bound organelle; membrane; plasma membrane

Molecular Function: protein binding

Biological Process: cell communication; placenta development