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familial Alzheimer's disease type 4 (FAD4), AD4 locus/presenilin-2 mutation associated
Early onset Alzheimer's disease identified in kindreds referred to as Volga-German families & 1 Italian family.
Genetics:
FAD4 results from mutations in the PS-2 gene that increase production of A4/42. [2] These mutations selectively increase the formation of A4/42 relative to A4/40.
Interactions
disease interactions
Related
presenilin-2; PS-2; STM-2; E5-1; AD3LP; AD5; contains: presenilin-2 NTF subunit; contains: presenilin-2 CTF subunit (PSEN2, AD4, PS2, PSNL2, STM2)
Specific
familial Alzheimer's disease [PS2/ASN141ILE]
familial Alzheimer's disease [STM2/MET239VAL]
General
familial Alzheimer's disease (FAD)
Database Correlations
OMIM 600759
MORBIDMAP 600759
Entrez Gene 5664
References
- Levy-Lahad E, Wijsman EM, Nemens E, Anderson L,
Goddard KA, Weber JL, Bird TD, Schellenberg GD.
A familial Alzheimer's disease locus on chromosome 1.
Science. 1995 Aug 18;269(5226):970-3.
PMID: 7638621
- Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J,
Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, et al.
Candidate gene for the chromosome 1 familial Alzheimer's
disease locus.
Science. 1995 Aug 18;269(5226):973-7.
PMID: 7638622
- Selkoe DJ.
Alzheimer's disease: genes, proteins, and therapy.
Physiol Rev. 2001 Apr;81(2):741-66. Review.
PMID: 11274343