PSEN2 - Presenilin-2 - human protein (Medical)
 
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PSEN2 »  Presenilin-2   [ EC 3.4.23.- ]  (PS-2)
 
Protein also known as:  AD3LP. Cleaved into:  Presenilin-2 CTF subunit; Presenilin-2 NTF subunit.
Gene name:  PSEN2
Family name: Peptidase A22A
Entry whose protein(s) existence is based on evidence at protein level
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1 129 3
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Alzheimer disease 4 (AD4) [MIM:606889]: A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. The disease is caused by mutations affecting the gene represented in this entry.  
6
  • CuratedUniProtKB
Cardiomyopathy, dilated 1V (CMD1V) [MIM:613697]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Early-onset autosomal dominant Alzheimer disease  1020  
Familial isolated dilated cardiomyopathy  154  
 

Keywords

Disease 
Alzheimer disease  definition   [KW-0026]
Amyloidosis  definition   [KW-1008]
Cardiomyopathy  definition   [KW-0122]
Disease mutation  definition   [KW-0225]
Neurodegeneration  definition   [KW-0523]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 5664
GeneReviews: PSEN2
MIM: 613697
MIM: 606889
PharmGKB: PA33856
Polymorphism databases
DMDM: 1709858
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.