LP190758-5

PSEN2 gene

Active

Description

The PSEN2 gene (presenilin 2) [HGNC Gene ID: 9509] is located on chromosome 1q42.13. Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or 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 act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008][NCBI Gene ID: 5664] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

PSEN2 gene

Part Display Name

PSEN2 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2015-04-30

Construct for LOINC Short Name

PSEN2 gene

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.

CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP190758-5

Language Variants Get Info

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.