Gene Report
Basic Info
Approved Symbol |
BACE1
|
Previous Symbol |
BACE |
Approved Name |
beta-site APP-cleaving enzyme 1 |
Previous Name |
beta-site APP-cleaving enzyme |
Location |
11q23-q24 |
Position |
chr11:117156402-117186975, - |
External Links |
HGNC: 933
Entrez Gene: 23621
Ensembl: ENSG00000186318
UCSC: uc001pqz.2
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 1)
Gene related GO terms (count: 15)
Gene related KEGG pathways (count: 1)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa05010 |
Alzheimer's disease |
40 |
Alzheimer's disease (AD) is a chronic disorder that slowly d......
Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress.
More...
|
Genes shared at least 5 GO terms with BACE1 (count: 3)
Genes shared at least 2 KEGG pathways with BACE1 (count: 0)
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