LP184369-9
APP gene
Active
Descriptions
The APP gene codes for the amyloid precursor protein found in many tissues, including the brain and spinal cord. More than 50 different mutations in the APP gene can cause early-onset Alzheimer disease, which begins before age 65. These mutations are responsible for less than 10 percent of all early-onset cases of the disorder. At least six mutations in the APP gene have been found to cause hereditary cerebral amyloid angiopathy, a condition characterized by stroke and a decline in intellectual function (dementia) that begins in mid-adulthood. Source: Genetic Home Reference, National Library of Medicine , APP gene
The APP gene (amyloid beta (A4) precursor protein) [HGNC Gene ID:620] is located on chromosome 21q21.3. 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] [NCBI Gene ID:351] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- APP gene
- Part Display Name
- APP gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-07-10
- Construct for LOINC Short Name
- APP
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP184369-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen APP |
| zh-CN | Chinese (China) | APP 基因 Synonyms: 淀粉样β (A4) 前体蛋白; |
| it-IT | Italian (Italy) | APP, gene Synonyms: Gene APP |
| tr-TR | Turkish (Turkey) | APP geni |
| nl-NL | Dutch (Netherlands) | APP-gen Synonyms: APP gen |
| el-GR | Greek (Greece) | Γονίδιο APP Synonyms: Γονίδιο APP |
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