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Swedish FAD double mutation (FAD1)
Adjacent Lys to Asn & Met to Leu mutations in the APP-gene immediately N-terminal to the beta-secretase cleavage site of the amyloid precursor protein (APP). (see APP-695 membrane region)
This changes the motif at the beta secretase site to one with improved caspase recognition elements, in particular for group III caspases such as caspase-6 in addition to cleavage of APP by beta-secretase. The result is an increased formation of A4/42 & A4/40.
Database Correlations
OMIM 104760
MORBIDMAP 104760
Entrez Gene 351
References
- Selkoe DJ.
Alzheimer's disease: genes, proteins, and therapy.
Physiol Rev. 2001 Apr;81(2):741-66. Review.
PMID: 11274343