Search
presenilin-2 (PS-2) gene (E5-1, STM2, ALG-3 {mouse homolog})
E5-1; mouse ALG-3. ALG-3 is the mouse homolog of Alzheimer's disease protein STM2 that rescues a T-cell hybridoma cell from T-cell receptor & Fas-induced apoptosis. AD4 locus. 3 missense mutations in the PS-2 gene give give to familial Alzheimer's disease type 4 (FAD4).
Related
familial Alzheimer's disease type 4 (FAD4), AD4 locus/presenilin-2 mutation associated
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)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: presenilin-2
SIZE: entity length = 2.3-2.4 KB
messenger RNA
TEMPLATE-FOR: presenilin-2
SIZE: entity length = 2.6-2.8 KB
LOCUS: human chromosome-1 Q31-42
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 600759
MORBIDMAP 600759
References
- 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
- Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M,
Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al.
Familial Alzheimer's disease in kindreds with missense
mutations in a gene on chromosome 1 related to the Alzheimer's
disease type 3 gene.
Nature. 1995 Aug 31;376(6543):775-8.
PMID: 7651536
- Vito P et al
Interfering with apoptosis: Ca(2+)-binding protein ALG-2
and Alzheimer's disease gene ALG-3.
Science. 1996 Jan 26;271(5248):521-5.
PMID: 8560270
- The structure of the presenilin 1 (S182) gene and
identification of six novel mutations in early onset AD
families. Alzheimer's Disease Collaborative Group.
Nat Genet. 1995 Oct;11(2):219-22.
PMID: 7550356
- Selkoe DJ.
Alzheimer's disease: genes, proteins, and therapy.
Physiol Rev. 2001 Apr;81(2):741-66. Review.
PMID: 11274343