ASPRV1
Function
Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization.
Involvement in disease
Ichthyosis, lamellar, autosomal dominant
ADLI
An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Undergoes autocleavage which is necessary for activation of the protein.
Tissue Specificity
Expressed primarily in the granular layer of the epidermis and inner root sheath of hair follicles. In psoriatic skin, expressed throughout the stratum corneum. In ulcerated skin, expressed in the stratum granulosum of intact epidermis but almost absent from ulcerated regions. Expressed in differentiated areas of squamous cell carcinomas but not in undifferentiated tumors.
Cellular localization
- Membrane
- Single-pass membrane protein
Alternative names
SASP, ASPRV1, Retroviral-like aspartic protease 1, Skin-specific retroviral-like aspartic protease, TPA-inducible aspartic proteinase-like protein, SASPase, Skin aspartic protease, TAPS