Background information
Anterior pharynx defective 1 (Aph-1) is a polytopic, seven-pass membrane protein that functions as one of the four essential components in the presenilin-Gamma-secretase enzyme complex. This enzyme complex is necessary for the intra-membrane proteolysis of several different membrane proteins, including the beta-Amyloid precursor protein, and is involved in multiple neurodevelopmental signaling pathways. Aph-1b and Aph-1a are splice variants of Aph-1. Aph-1b specifically lacks exon 4, which encodes for the entire fourth transmembrane domain, causing the protein to be destabilized. Deficiency of Aph-1a causes a reduction in Gamma-secretase activity, however deficiency of Aph-1b does not; thus, Aph-1b may execute redundant functions in the cell. Aph-1b expression and Gamma-secretase activity may be implicated in neurodevelopmental disorders, such as schizophrenia.
