Coiled-coil alpha-helical rod protein 1, also known as CCHCR1, is a protein

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...

 which in humans is encoded by the CCHCR1 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...

.

Clinical significance

In genetically engineered mice, certain CCHCR1 polymorphism

Polymorphism (biology)

Polymorphism in biology occurs when two or more clearly different phenotypes exist in the same population of a species — in other words, the occurrence of more than one form or morph...

s cause upregulation of the expression of cytokeratin

Cytokeratin

Cytokeratins are proteins of keratin-containing intermediate filaments found in the intracytoplasmic cytoskeleton of epithelial tissue. The term "cytokeratin" began to be used in the late 1970s when the protein subunits of keratin intermediate filaments inside cells were first being identified and...

s 6 (KRT6A

Keratin 6A

Keratin 6A is a protein that in humans is encoded by the KRT6A gene.- Keratins :Keratins are the intermediate filament proteins that form a dense meshwork of filaments throughout the cytoplasm of epithelial cells. Keratins form heteropolymers consisting of a type I and a type II keratin...

), 16 (KRT16

Keratin 16

Keratin 16 is a protein that in humans is encoded by the KRT16 gene.Keratin 16 is a type I cytokeratin. It is paired with keratin 6 in a number of epithelial tissues, including nail bed, esophagus, tongue, and hair follicles...

) and 17 (KRT17

Keratin 17

Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the KRT17 gene.Keratin 17 is a type I cytokeratin. It is found in nail beds, hair follicles, sebaceous glands, and other epidermal appendages...

) and change in expression in other genes associated with terminal differentiation and formation of the cornified cell envelope. These CCHCR1 polymorphisms may therefore be associated with a susceptibility to psoriasis

Psoriasis

Psoriasis is an autoimmune disease that appears on the skin. It occurs when the immune system mistakes the skin cells as a pathogen, and sends out faulty signals that speed up the growth cycle of skin cells. Psoriasis is not contagious. However, psoriasis has been linked to an increased risk of...

. Defective functioning of CCHCR1 may lead to abnormal 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"...

proliferation which is a key feature of psoriasis.

Further reading