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presenilin-1 (PS-1) gene

Function: - gene appears to be essential for viability from studies with PS-1 knockout mice. Pathology: - 75 missense mutations in the PS-1 gene give rise to familial Alzheimer's disease type 3 - these mutations result in ~1.2-3x increase production of A-beta 42 (amyloid beta 1-42)

Related

familial Alzheimer's disease type 3 (FAD3), AD3 locus/presenilin-1 mutation associated presenilin-1 (PS-1) knockout mouse presenilin-1; PS-1; EC=3.4.23.-; protein S182; contains: presenilin-1 NTF subunit; contains: presenilin-1 CTF subunit; contains: presenilin-1 CTF12; PS1-CTF12 (PSEN1, AD3, PS1, PSNL1)

General

unclassified gene

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: presenilin-1 LOCUS: human chromosome-14 Q24.3 MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

Database Correlations

OMIM 104311 MORBIDMAP 104311

References

  1. 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
  2. Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: 11274343