CLCN2
Encyclopedia
Chloride channel protein 2 is a protein
that in humans is encoded by the CLCN2 gene
. Mutations of this gene have been found to cause Idiopathic generalised epilepsy . CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain
.
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 CLCN2 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...
. Mutations of this gene have been found to cause Idiopathic generalised epilepsy . CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain
CBS domain
The CBS domain is a protein domain found in a range of proteins in all species from bacteria to man. It was first identified as a conserved sequence region in 1997 and named after cystathionine beta synthase, one of the proteins it is found in...
.