Arylsulfatase I (ARSI)

Arylsulfatase I (ARSI) is a member of the human sulfatase enzyme family responsible for the hydrolysis of sulfate esters and sulfamates, thereby contributing to the degradation of various macromolecules and potentially participating in hormone synthesis and cell signaling[1][2][6]. The ARSI gene encodes a secreted enzyme that is primarily active at neutral pH, especially in the extracellular environment, and its expression is preferentially high in retinal pigment epithelium[1][4]. While ARSI itself has not been found to cause lysosomal storage diseases, mutations in the gene have been investigated as a potential cause of inherited retinal degenerative diseases such as retinitis pigmentosa[1]. It may also play roles in other diseases, as variants are linked with certain neurological and hematological disorders[2][6]. The ARSI protein is part of metabolic pathways including sphingolipid metabolism and protein degradation, and it requires post-translational modification by sulfatase modifying factor 1 (SUMF1) for catalytic activity[1][2][4]. No drugs or drug mechanisms directly targeting ARSI are currently reported, nor is it established as a biomarker or known to present notable safety concerns as a therapeutic target.

Other names

Arylsulfatase family member IARSIASIFLJ16069SPG66arylsulfatase Iarylsulfatase I (human)