Keratin 2A
Encyclopedia
Keratin 2A also known as keratin 2E or keratin 2 is a protein
that in humans is encoded by the KRT2A gene
.
Keratin 2A is a type II cytokeratin
. It is found largely in the upper spinous layer of epidermal keratinocyte
s and mutations in the gene encoding this protein have been associated with ichthyosis bullosa of Siemens
.
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 KRT2A 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 2A is a type II cytokeratin
Type II cytokeratin
Type II keratins constitutes the Type II intermediate filaments of the intracytoplasmatic cytoskeleton, which is present in all mammalian epithelial cells...
. It is found largely in the upper spinous layer of epidermal keratinocyte
Keratinocyte
Keratinocytes are the predominant cell type in the epidermis, the outermost layer of the human skin, constituting 95% of the cells found there. Those keratinocytes found in the basal layer of the skin are sometimes referred to as "basal cells" or "basal keratinocytes"...
s and mutations in the gene encoding this protein have been associated with ichthyosis bullosa of Siemens
Ichthyosis bullosa of Siemens
Ichthyosis bullosa of Siemens is a rare skin disorder which is a type of familial, autosomal dominant ichthyosis. It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa...
.