APH1A Antibody – Rabbit Polyclonal

This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]

APH1A: Essential 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. Belongs to the APH-1 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Apoptosis; Membrane protein, multi-pass; Endoplasmic reticulum; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1p36.13-q31.3

Cellular Component: Golgi apparatus; endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to plasma membrane; plasma membrane

Molecular Function: protein binding; endopeptidase activity

Biological Process: positive regulation of catalytic activity; axon guidance; Notch signaling pathway; amyloid precursor protein catabolic process; membrane protein intracellular domain proteolysis; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; membrane protein ectodomain proteolysis; ephrin receptor signaling pathway; Notch receptor processing; protein processing; metanephros development