Keratin 14
Encyclopedia
Keratin, type I cytoskeletal 14 also known as cytokeratin-14 (CK-14) or keratin-14 (K14) is a protein
that in humans is encoded by the KRT14 gene
.
Keratin 14 is a type I keratin. It is usually found as a heterotetramer with two keratin 5
molecules, a type II keratin. Together they form the cytoskeleton
of epithelial cells.
simplex and Dermatopathia pigmentosa reticularis
, both of which are autosomal dominant mutations.
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 KRT14 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...
.
Keratin 14 is a type I keratin. It is usually found as a heterotetramer with two keratin 5
Keratin 5
Keratin, type II cytoskeletal 5 also known as KRT5 is a protein that in human is encoded by the KRT5 gene.- Function :The protein encoded by this gene is a member of the keratin gene family...
molecules, a type II keratin. Together they form the cytoskeleton
Cytoskeleton
The cytoskeleton is a cellular "scaffolding" or "skeleton" contained within a cell's cytoplasm and is made out of protein. The cytoskeleton is present in all cells; it was once thought to be unique to eukaryotes, but recent research has identified the prokaryotic cytoskeleton...
of epithelial cells.
Pathology
Mutations in the genes for these keratins are associated with epidermolysis bullosaEpidermolysis bullosa
Epidermolysis bullosa is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene....
simplex and Dermatopathia pigmentosa reticularis
Dermatopathia pigmentosa reticularis
Dermatopathia pigmentosa reticularis is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia...
, both of which are autosomal dominant mutations.