ASPRV1

Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization.

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.

Undergoes autocleavage which is necessary for activation of the protein.

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.

• Membrane
• Single-pass membrane protein

SASP, ASPRV1, Retroviral-like aspartic protease 1, Skin-specific retroviral-like aspartic protease, TPA-inducible aspartic proteinase-like protein, SASPase, Skin aspartic protease, TAPS

• entrezGene:151516
• swissprot:Q53RT3

Proteins

36991Da