LP135459-8
APOB+LDLR+PCSK9 gene
Active
Description
APOB, LDLR and PCSK9 are three genes associated with familial hypercholesterolemia (FH). FH associated with APOB and LDLR mutations is more common than that associated with PCSK9.
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]
PCSK9 encodes proprotein convertase subtilisin/kexin type 9, an enzyme which binds to several different LDL, VLDL and apolipoprotein receptors and promotes their degradation. Mutations in PCSK9 result in increased enzyme activity, which leads to increased receptor degradation and decreased availability of receptors to bind and transport lipids into the cell. The end result is an increase in circulating lipid levels. [UniProt: Q8NBP7]
Source: Regenstrief LOINC,
UniProt
Basic Part Properties
- Part Name
- APOB+LDLR+PCSK9 gene
- Part Display Name
- APOB+LDLR+PCSK9 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2011-09-22
- Construct for LOINC Short Name
- APOB+LDLR+PCSK9 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | APOB+LDLR+PCSK9 基因 |
| es-ES | Spanish (Spain) | Gen APOB+LDLR+PCSK9 |
| it-IT | Italian (Italy) | APOB+LDLR+PCSK9, gene Synonyms: Gene APOB+LDLR+PCSK9 |
| tr-TR | Turkish (Turkey) | APOB+LDLR+PCSK9 geni |
| ru-RU | Russian (Russian Federation) | APOB+LDLR+PCSK9 ген |
| nl-NL | Dutch (Netherlands) | APOB + LDLR + PCSK9-gen Synonyms: APOB+LDLR+PCSK9 gen |
| fr-FR | French (France) | APOB+LDLR+PCSK9 gènes |
| pl-PL | Polish (Poland) | APOB+LDLR+PCSK9 gen Synonyms: Gen APOB, LDLR i PCSK9 |
| el-GR | Greek (Greece) | Γονίδιο APOB+LDLR+PCSK9 Synonyms: Γονίδιο APOB+LDLR+PCSK9 |
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://