SERPINB8
Function
Has an important role in epithelial desmosome-mediated cell-cell adhesion.
Involvement in disease
Peeling skin syndrome 5
PSS5
A form of peeling skin syndrome, 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. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the serpin family. Ov-serpin subfamily.
Cellular localization
- Cytoplasm
Alternative names
PI8, SERPINB8, Serpin B8, Cytoplasmic antiproteinase 2, Peptidase inhibitor 8, CAP-2, CAP2, PI-8