Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''GJB3''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
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 variabilis
Erythrokeratodermia variabilis (also known as "erythrokeratodermia figurata variabilis", "keratosis extremitatum progrediens", "keratosis palmoplantaris transgrediens et progrediens",Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General ...
, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview
Connexins
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