CSTA
Function
This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.
Involvement in disease
Peeling skin syndrome 4
PSS4
A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non-erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the cystatin family.
Tissue Specificity
Expressed in the skin throughout the epidermis.
Cellular localization
- Cytoplasm
Alternative names
STF1, STFA, CSTA, Cystatin-A, Cystatin-AS, Stefin-A