ASPRV1

Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and

Full Name

aspartic peptidase, retroviral-like 1

Function

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

Biological Process

Protein processing Source: UniProtKB
Skin development Source: UniProtKB

Cellular Location

Membrane

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.

Topology

Cytoplasmic: 1-55 aa
Helical: 56-76 aa
Extracellular: 77-343 aa

PTM

Undergoes autocleavage which is necessary for activation of the protein.