LP95532-5
LDLR gene
Active
Description
The LDLR gene (low density lipoprotein receptor) [HGNC Gene ID:6547] is located on chromosome 19p13.2. The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] [NCBI Gene ID:3949] 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
- LDLR gene
- Part Display Name
- LDLR gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-07-28
- Construct for LOINC Short Name
- LDLR gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen LDLR |
| it-IT | Italian (Italy) | LDLR, gene Synonyms: Gene LDLR |
| et-EE | Estonian (Estonia) | LDLR geen |
| zh-CN | Chinese (China) | LDLR 基因 Synonyms: FH; |
| tr-TR | Turkish (Turkey) | LDLR geni |
| ru-RU | Russian (Russian Federation) | LDLR ген |
| nl-NL | Dutch (Netherlands) | LDLR-gen Synonyms: LDLR gen |
| el-GR | Greek (Greece) | Γονίδιο LDLR Synonyms: Γονίδιο LDLR |
LOINC Copyright
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