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Article

Disease-associated mutations in human mannose-binding lectin compromise oligomerization and activity of the final protein.

The Journal of biological chemistry - 14 May 2004

Larsen Flemming, Madsen Hans O, Sim Robert B, Koch Claus, Garred Peter

Abstract excerpt

Deficiency of human mannose-binding lectin (MBL) caused by mutations in the coding part of the MBL2 gene is associated with increased risk and severity of infections and autoimmunity. To study the biological consequences of MBL mutations, we expressed wild type MBL and mutated MBL in Chinese hamster ovary cells. The normal MBL cDNA (WT MBL-A) was cloned, and the three known natural and two artificial variants...

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Identifiers

PMID: 14764589
DOI: 10.1074/jbc.M400520200

Genes

MBL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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