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Article

Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.

Human molecular genetics - 15 Oct 2015

Strøm Thea Bismo, Laerdahl Jon K, Leren Trond P

Abstract excerpt

Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH). The mechanism by which mutations in the LDLR affecting the transmembrane domain of the receptor cause FH has not been thoroughly investigated. In this study, we have selected 12 naturally occurring mutations affecting the transmembrane domain and studied their effect on the LDLR. The main strategy has been to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26220972
DOI: 10.1093/hmg/ddv304

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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