CDSN

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq]

Full Name

corneodesmosin

Function

Important for the epidermal barrier integrity.

Biological Process

Cell adhesion Source: ProtInc
Cell-cell adhesion Source: MGI
Corneocyte desquamation Source: CAFA
Cornification Source: Reactome
Epidermis development Source: ProtInc
Keratinocyte differentiation Source: UniProtKB
Negative regulation of cornification Source: CAFA
Skin morphogenesis Source: UniProtKB

Cellular Location

Secreted. Found in corneodesmosomes, the intercellular structures that are involved in desquamation.

Involvement in disease

Hypotrichosis 2 (HYPT2): A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT2 inheritance is autosomal dominant.
Peeling skin syndrome 1 (PSS1): A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels.