LP33148-5
PSEN1 gene
Active
Description
The PSEN1 gene (presenilin 1) [HGNC Gene ID:9508] is located on chromosome 14q24.3. Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] [NCBI Gene ID:5663] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
| Webcontent | Lab Tests Online®Copyright Copyright © 2021 Lab Tests Online. All rights reserved. | PSEN1 |
Basic Part Properties
- Part Name
- PSEN1 gene
- Part Display Name
- PSEN1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-10
- Construct for LOINC Short Name
- PSEN1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP33148-5
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PSEN1 基因 Synonyms: AD3; |
| et-EE | Estonian (Estonia) | PSEN1 geen |
| es-ES | Spanish (Spain) | Gen PSEN1 |
| it-IT | Italian (Italy) | PSEN1, gene Synonyms: Gene PSEN1 |
| tr-TR | Turkish (Turkey) | PSEN1 geni |
| ru-RU | Russian (Russian Federation) | PSEN1 ген |
| nl-NL | Dutch (Netherlands) | PSEN1-gen Synonyms: PSEN1 gen |
LOINC Copyright
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