Preferred Label : Amyloid-Beta Precursor Protein;
NCIt synonyms : PN II; Cerebralvascular Amyloid Peptide; Protease Nexin II; Amyloid Beta (A4) Precursor Protein; ABPP; AAA; PreA4; PN2; Protease Nexin-II, Alzheimer Disease; PN-II; Alzheimer Disease 1 Protein; Amyloid Beta-Peptide; Amyloid of Aging and Alzheimer Disease Protein; CVAP; Amyloid; APPI; Alzheimer's Disease Amyloid Protein; APP; Protease Nexin-II; Cerebral Vascular Amyloid Peptide; Amyloid Beta A4 Protein Precursor; Alzheimer Disease Amyloid Protein; Amyloid Beta-A4 Protein Precursor; Alzheimer Disease Amyloid A4 Protein Homolog; Amyloid Precursor Protein; Amyloid-Beta (A4) Precursor Protein; Amyloid-Beta A4 Protein; Amyloid Beta A4 Protein;
NCIt definition : Amyloid-beta precursor protein (770 aa, 87 kDa) is encoded by the human APP gene.
This protein is involved in cell surface receptor-mediated signaling and is processed
by secretases into soluble peptides, membrane-anchored fragments, plaque amyloid components,
transcriptional regulatory molecules and neurotoxic fragments.;
NCIt note : Amyloid Beta A4 Protein is an N-/O-glycosylated sulfated metal ion-binding type I
cell surface protein containing a BPTI protease inhibitor domain. Phosphorylation
by Casein Kinases, CDC5, CDC2, and MAPK10 can affect processing, interaction with
Fe65, and SHC binding. A kinesin I membrane receptor for cell mobility, adhesion,
and axonogenesis/synaptogenesis, APP variants inhibit Notch signaling, regulate copper
homeostasis, bind lipoproteins, activate transcription, and enhance apoptosis via
G(O) and JIP pathways. NPXY is required for binding protein PID domains, endocytosis,
and BaSS sorting. APP defects cause Alzheimer's disease and cerebroarterial amyloidosis.;
Origin ID : C16285;
UMLS CUI : C0611285;
- Currated CISMeF NLP mapping
- False automatic mappings
- OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_has_associated_anatomy
- gene_product_has_chemical_classification
- gene_product_has_organism_source
- gene_product_has_structural_domain_or_motif
- gene_product_is_element_in_pathway
- gene_product_malfunction_associated_with_disease
- gene_product_plays_role_in_biological_process
- is_target