NCSTN Antibody – Rabbit Polyclonal

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]

nicastrin: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). It probably represents a stabilizing cofactor required for the assembly of the gamma-secretase complex. 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. Binds to proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP). Constitutively expressed in neural cells. Widely expressed. Belongs to the nicastrin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 1q22-q23

Cellular Component: Golgi apparatus; focal adhesion; membrane; integral to plasma membrane; lysosomal membrane; endoplasmic reticulum; plasma membrane; integral to membrane; melanosome

Molecular Function: protein binding; endopeptidase activity

Biological Process: positive regulation of catalytic activity; axon guidance; extracellular matrix organization and biogenesis; Notch signaling pathway; membrane protein intracellular domain proteolysis; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; membrane protein ectodomain proteolysis; myeloid cell homeostasis; Notch receptor processing; proteolysis; T cell proliferation; extracellular matrix disassembly; amyloid precursor protein catabolic process; epithelial cell proliferation; beta-amyloid metabolic process; ephrin receptor signaling pathway; protein processing

Disease: Acne Inversa, Familial, 1