LP19650-8
APOE gene
Active
Description
The APOE gene (apolipoprotein E) [HGNC Gene ID:613] is located on chromosome 19q13.2. The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] [NCBI Gene ID:348] 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 |
Basic Part Properties
- Part Name
- APOE gene
- Part Display Name
- APOE gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- APOE 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=LP19650-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | APOE 基因 Synonyms: AD2; |
| et-EE | Estonian (Estonia) | APOE geen |
| es-ES | Spanish (Spain) | Gen ApoE |
| it-IT | Italian (Italy) | APOE, gene Synonyms: Gene APOE |
| tr-TR | Turkish (Turkey) | APOE geni |
| ru-RU | Russian (Russian Federation) | APOE ген Synonyms: Аполипопротеина Е ген |
| nl-NL | Dutch (Netherlands) | APOE-gen Synonyms: APOE gen |
LOINC Copyright
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