PSEN1 - Presenilin-1 - human protein (Medical)
 
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PSEN1 »  Presenilin-1   [ EC 3.4.23.- ]  (PS-1)
 
Protein also known as:  Protein S182. Cleaved into:  Presenilin-1 CTF subunit; Presenilin-1 CTF12; Presenilin-1 NTF subunit.
Gene name:  PSEN1
Family name: Peptidase A22A
Entry whose protein(s) existence is based on evidence at protein level
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1 142 7
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Alzheimer disease 3 (AD3) [MIM:607822]: 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.  
  • CuratedUniProtKB
Frontotemporal dementia (FTD) [MIM:600274]: A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Cardiomyopathy, dilated 1U (CMD1U) [MIM:613694]: 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.  
  • CuratedUniProtKB
Acne inversa, familial, 3 (ACNINV3) [MIM:613737]: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Behavioral variant of frontotemporal dementia  275864  
Early-onset autosomal dominant Alzheimer disease  1020  
Familial isolated dilated cardiomyopathy  154  
Hidradenitis suppurativa  387  
Progressive non-fluent aphasia  100070  
Semantic dementia  100069  
 

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: 5663
MIM: 613737
MIM: 600274
MIM: 607822
MIM: 613694
PharmGKB: PA33855
Polymorphism databases
DMDM: 1709856
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.