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产品介绍background:

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.

 

Function:

Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A.

 

Subunit:

Probable component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist (By similarity). Interacts with PSEN1 and PSEN2.

 

Subcellular Location:

Membrane; Multi-pass membrane protein

 

Tissue Specificity:

Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, colon, skeletal muscle, heart and brain.