APP - Amyloid beta A4 protein - human protein (Medical)
 
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APP »  Amyloid beta A4 protein
 
Cleaved into:  Beta-amyloid protein 40; Beta-amyloid protein 42; C31; C80; C83; C99; Gamma-secretase C-terminal fragment 50; Gamma-secretase C-terminal fragment 57; Gamma-secretase C-terminal fragment 59; N-APP; P3(40); P3(42); Soluble APP-alpha; Soluble APP-beta.
Gene name:  APP
Family name: APP
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: APP770     

 
 

Medical

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Disease 
Alzheimer disease 1 (AD1) [MIM:104300]: A familial early-onset form of Alzheimer disease. It can be associated with cerebral amyloid angiopathy. 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.  
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  • CuratedUniProtKB
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]: A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications. The disease is caused by mutations affecting the gene represented in this entry.  
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  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Early-onset autosomal dominant Alzheimer disease  1020  
Hereditary cerebral hemorrhage with amyloidosis, Arctic type  324723  
Hereditary cerebral hemorrhage with amyloidosis, Dutch type  100006  
Hereditary cerebral hemorrhage with amyloidosis, Flemish type  324718  
Hereditary cerebral hemorrhage with amyloidosis, Iowa type  324708  
Hereditary cerebral hemorrhage with amyloidosis, Italian type  324713  
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type  324703  
 

Keywords

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

Further external links

Organism-specific databases
CTD: 351
GeneReviews: APP
MIM: 104300
MIM: 605714
PharmGKB: PA24910
Polymorphism databases
DMDM: 112927
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.