loading...| Preferred Name |
APP wt Allele |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51309 |
| code |
C51309 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 |
| Contributing_Source |
CTRP |
| DEFINITION |
Human APP wild-type allele is located in the vicinity of 22q13.2 and is approximately 290 kb in length. This allele, which encodes amyloid-beta precursor protein, is involved in transcriptional activation and peptide regulation. APP defects can cause Alzheimer's disease and cerebroarterial amyloidosis. |
| Display_Name |
APP wt Allele |
| EntrezGene_ID |
351 |
| FULL_SYN |
Amyloid Beta (A4) Precursor Protein wt Allele APP wt Allele CVAP Alzheimer Disease Gene CTFgamma PN-II ABETA PN2 A4 APPI ABPP AD1 Amyloid of Aging and Alzheimer Disease Gene AAA Amyloid Beta (A4) Precursor Protein (Protease Nexin-II, Alzheimer Disease) wt Allele |
| GenBank_Accession_Number |
NM_000484 |
| Gene_Encodes_Product |
Amyloid Beta A4 Protein Precursor |
| GO_Annotation |
serine protease inhibitor activity signal transduction extracellular apoptosis endoplasmic reticulum integral to plasma membrane Golgi apparatus copper ion homeostasis cell death protein binding |
| label |
APP wt Allele |
| Legacy Concept Name |
APP_wt_Allele |
| OMIM_Number |
104760 |
| Preferred_Name |
APP wt Allele |
| prefixIRI |
Thesaurus:C51309 |
| prefLabel |
APP wt Allele |
| Semantic_Type |
Gene or Genome |
| UMLS_CUI |
C1705543 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||