LP96202-4
APOB gene+LDLR gene
Active
Description
APOB and LDLR are the most common genes associated with familial hypercholesterolemia (FH).
APOB encodes apolipoprotein B, a primary protein component of low-density lipoprotein (LDL), very low-density lipoprotein (VLDL) and chylomicrons. Mutations in the APOB gene affect the region of apolipoprotein B that binds to the LDL receptor, which results in decreased receptor binding, leading to increased circulating levels of LDL. [UniProt: P04114]
LDLR encodes the LDL cell membrane receptor, which binds LDL and transports it into the cell. LDLR mutations result in defective binding of LDL to the LDL receptor, resulting in increased circulating levels of LDL. [UniProt: P01130]
Source: Regenstrief LOINC,
UniProt: P04114
Basic Part Properties
- Part Name
- APOB gene+LDLR gene
- Part Display Name
- APOB gene+LDLR gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-08-14
- Construct for LOINC Short Name
- APOB+LDLR gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | APOB 基因+LDLR 基因 |
| et-EE | Estonian (Estonia) | APOB geen+LDLR geen |
| es-ES | Spanish (Spain) | Gen APOB+Gen LDLR |
| it-IT | Italian (Italy) | APOB, gene+LDLR, gene Synonyms: Gene APOB+Gene LDLR |
| tr-TR | Turkish (Turkey) | APOB geni+LDLR geni |
| ru-RU | Russian (Russian Federation) | APOB ген+LDLR ген |
| nl-NL | Dutch (Netherlands) | APOB-gen + LDLR-gen Synonyms: APOB gen+LDLR gen |
| fr-FR | French (France) | APOB+LDLR gènes |
| pl-PL | Polish (Poland) | APOB gen+LDLR gen Synonyms: Gen APOB i gen LDLR |
| el-GR | Greek (Greece) | Γονίδιο APOB+γονίδιο LDLR Synonyms: Γονίδιο APOB+γονίδιο LDLR |
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://