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Article

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.

Atherosclerosis - 1 Jul 2016

Pavloušková Jana, Réblová Kamila, Tichý Lukáš, Freiberger Tomáš, Fajkusová Lenka

Abstract excerpt

The low density lipoprotein receptor (LDLR) is a transmembrane protein that plays a key role in cholesterol metabolism. It contains 860 amino acids including a 21 amino acid long signal sequence, which directs the protein into the endoplasmic reticulum. Mutations in the LDLR gene lead to cholesterol accumulation in the plasma and results in familial hypercholesterolemia (FH). Knowledge of the impact of a mutation...

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Source

Identifiers

PMID: 27175606
DOI: 10.1016/j.atherosclerosis.2016.04.022

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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