Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; and regulation of immune response. Located in cytoplasmic vesicle; endoplasmic reticulum membrane; and plasma membrane. Implicated in primary immunodeficiency disease.
RGD Description
This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]