Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease and a frequent complication of Down syndrome. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein by 2 proteases, one of which is the protein encoded by this gene. This gene localizes to the 'Down critical region' of chromosome 21. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease. Three transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].
Function:
Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated SLCterminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672.
Subunit:
Monomer. Interacts ith RTN3 and RTN4.
Subcellular Location:
Membrane. Golgi apparatus. Endoplasmic reticulum. Endosome. Cell surface.
Tissue Specificity:
Brain. Present in neurons within the hippocampus, frontal cortex and temporal cortex (at protein level). Expressed at low levels in most peripheral tissues and at higher levels in colon, kidney, pancreas, placenta, prostate, stomach and trachea. Expressed at low levels in the brain. Found in spinal cord, medulla oblongata, substantia nigra and locus coruleus. Expressed in the ductal epithelium of both normal and malignant prostate.
Post-translational modifications:
Undergoes autoproteolytic cleavage.
Glycosylated.
Similarity:
Belongs to the peptidase A1 family.
SWISS:
Q9Y5Z0
Gene ID:
25825
Database links:
Entrez Gene: 25825 Human
Entrez Gene: 56175 Mouse
Entrez Gene: 288227 Rat
Omim: 605668 Human
SwissProt: Q9Y5Z0 Human
SwissProt: Q9JL18 Mouse
SwissProt: Q6IE75 Rat
Unigene: 529408 Human
Unigene: 97885 Mouse
Unigene: 38581 Rat
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