GJB3
Encyclopedia
Gap junction beta-3 protein is a protein
that in humans is encoded by the GJB3 gene
.
, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the GJB3 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
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 variabilisErythrokeratodermia variabilis
Erythrokeratodermia variabilis is a rare autosomal dominant disorder that usually presents at birth or during the...
, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.