GJC3
Encyclopedia
Gap junction gamma-3, also known as connexin-30.2 (Cx30.2) or connexin-31.3 (Cx31.3) or gap junction epsilon-1 (GJE1), is a protein
that in humans is encoded by the GJC3 gene
.
GJC3 is a connexin
.
protein. The encoded protein, also known as a connexin
, plays a role in formation of gap junctions, which provide direct connections between neighboring cells.
.
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 GJC3 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...
.
GJC3 is a connexin
Connexin
Connexins, or gap junction proteins, are a family of structurally-related transmembrane proteins that assemble to form vertebrate gap junctions . Each gap junction is composed of two hemichannels, or connexons, which are themselves each constructed out of six connexin molecules...
.
Function
This gene encodes a gap junctionGap junction
A gap junction or nexus is a specialized intercellular connection between a multitude of animal cell-types. It directly connects the cytoplasm of two cells, which allows various molecules and ions to pass freely between cells....
protein. The encoded protein, also known as a connexin
Connexin
Connexins, or gap junction proteins, are a family of structurally-related transmembrane proteins that assemble to form vertebrate gap junctions . Each gap junction is composed of two hemichannels, or connexons, which are themselves each constructed out of six connexin molecules...
, plays a role in formation of gap junctions, which provide direct connections between neighboring cells.
Clinical significance
Mutations in this gene have been reported to be associated with nonsyndromic hearing lossNonsyndromic deafness
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
.