Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.

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Article

Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.

The Journal of biological chemistry - 5 Oct 1992

Hata A, Ridinger D N, Sutherland S D, Emi M, Kwong L K, Shuhua J, Lubbers A, Guy-Grand B, Basdevant A, Iverius P H

Abstract excerpt

Most missense mutations of the lipoprotein lipase (LPL) gene identified among LPL-deficient subjects cluster in a segment of the sequence that encodes the catalytic triad as well as functional elements involved in the activation of the lipase at lipid-water interfaces. Consequently, loss of activity may result either from direct alterations of such functional elements or from less specific effects on protein...

Topics

Adult
Amino Acid Sequence
Base Sequence
Cells, Cultured
Chromatography, Affinity
DNA
Exons
Humans
Lipoprotein Lipase
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutagenesis, Site-Directed

Mutation

Nucleic Acid Hybridization

Precipitin Tests

Protein Folding

Transfection

Source

Open in PubMed

Identifiers

PMID: 1400331

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1400331-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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