rs63749964
This is a variant in the APP gene that changes a valine to an glycine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Flemish and Dutch Mutations in Amyloid β Precursor Protein Have Different Effects on Amyloid β SecretionReviewChris De Jonghe et al.(1998)· Neurobiology of Disease
This is a comprehensive review of experimental evidence and clinical studies on the functions of the Amyloid Precursor Protein (APP) gene and its derivative peptides (Aβ). The paper synthesizes in vitro and in vivo studies demonstrating APP's roles in neurite growth, cellular adhesion, synaptic function, and response to brain injury. It covers APP mutations associated with familial Alzheimer's disease (including Val717Ile, Val717Phe, Val717Gly, and Swedish 670/671 mutations), the pathogenic role of Aβ oligomers in synaptic dysfunction, and mechanisms of Aβ processing through secretase-mediated cleavage.
About APP
This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
View all APP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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