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Article

The lipoprotein lipase (LPL) S447X gain of function variant involves increased mRNA translation.

Atherosclerosis - 1 Mar 2012

Ranganathan Gouri, Unal Resat, Pokrovskaya Irina D, Tripathi Preeti, Rotter Jerome I, Goodarzi Mark O, Kern Philip A

Abstract excerpt

OBJECTIVE: A common gain-of-function LPL variant, LPLS447X, has favorable clinical features and involves a C→G base change at nucleotide 1595 of the LPL cDNA, along with a haplotype, which includes other non-coding SNPs. The mechanism for the LPL gain-in-function is not clear. LPL translation is regulated by epinephrine by an RNA-protein complex, consisting of PKA subunits and an A kinase anchoring protein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22244040
DOI: 10.1016/j.atherosclerosis.2011.12.028
PMCID: PMC3288274

Genes

LPL

Variants

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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