APP amyloid beta precursor protein
Gene ID: 351, updated on 24-Sep-2024Gene type: protein coding
Also known as: AAA; AD1; PN2; ABPP; APPI; CVAP; ABETA; PN-II; preA4; CTFgamma; alpha-sAPP
- See all available tests in GTR for this gene
- Go to complete Gene record for APP
- Go to Variation Viewer for APP variants
Summary
This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Alzheimer disease MedGen: C0002395GeneReviews: Alzheimer Disease Overview | See labs |
| Alzheimer disease type 1 | See labs |
| Cerebral amyloid angiopathy, APP-related | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2024-06-03) ClinGen Genome Curation PageTriplosensitivity Sufficient evidence for dosage pathogenicity (Last evaluated 2024-06-03) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 21q21.3
- Sequence:
- Chromosome: 21; NC_000021.9 (25880550..26171128, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for APP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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