| beta-site APP-cleaving enzyme 1 | OKDB#: 196 |
| Symbols: | BACE1 | Species: | human | ||
| Synonyms: | ASP2, BACE, HSPC104, FLJ90568, KIAA1149,ASP2, BACE, HSPC104, FLJ90568, KIAA1149,BETA-SITE APP-CLEAVING ENZYME, BACE|SECRETASE, BETA|MEMAPSIN 2 | Locus: | 11q23.2-q23.3 in Homo sapiens |
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| General Comment |
Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer disease. Amyloid beta generation depends on proteolytic cleavage of amyloid precursor protein by 2 proteases, beta-secretase and gamma-secretase. Vassar et al. (1999) reported the cloning of a human transmembrane aspartic protease that had all the known characteristics of the beta-secretase. Using an expression cloning strategy, they identified a clone that shared significant sequence similarity with members of the pepsin subfamily of aspartic proteases. This clone encoded a novel protein, designated BACE for 'beta-site APP-cleaving enzyme.'
NCBI Summary: Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] |
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| General function | Enzyme, Hydrolase, Peptidase/Protease | ||||
| Comment | The lumenal domain of the mature BACE protein is followed by 1 predicted transmembrane domain and a short cytosolic C-terminal tail of 24 amino acids. BACE was predicted to be a type 1 transmembrane protein with the active site on the lumenal side of the membrane. | ||||
| Cellular localization | Plasma membrane | ||||
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| Ovarian function | |||||
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| Expression regulated by | |||||
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| Ovarian localization | |||||
| Comment | Northern blot analysis indicated wide expresson of human BACE mRNA in adult peripheral tissues, including the ovary. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
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| created: | Nov. 15, 1999, midnight | by: |
Hsueh email:
home page: |
| last update: | May 5, 2010, 9:29 a.m. | by: | hsueh email: |
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