Background：

This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins， including Notch receptors and beta-amyloid precursor protein， and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide， the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer’s disease; however， the nature of the encoded protein’s role in Alzheimer’s disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described， but the full-length nature of some of these variants has not been determined. [provided by RefSeq， Feb 2014]