Ncstn Gene Search Result

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2 records found for search term Ncstn

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1351739	NCSTN	nicastrin	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-se ... (more) cretase 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]	1	160343383	160358949	Human	225	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
6481592	NCSTNP1	nicastrin pseudogene 1		21	27492118	27492261	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]