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Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome

DOI: 10.1186/s12915-015-0136-2 DOI Help
PMID: 25912189 PMID Help

Authors: Umakhanth Venkatraman Girija (University of Leicester) , Christopher Furze (University of Leicester) , Alex Gingras (University of Leicester) , Takayuki Yoshizaki (Asahikawa Medical University) , Katsuki Ohtani (Asahikawa Medical University) , Jamie E Marshall (Asahikawa Medical University) , A Katrine Wallis (Coventry University) , Wilhelm J Schwaeble (University of Leicester) , Mohammed El-mezgueldi (University of Leicester) , Daniel A Mitchell (Warwick Medical School) , Peter Moody (University of Leicester) , Nobutaka Wakamiya (Asahikawa Medical University) , Russell Wallis (University of Leicester)
Co-authored by industrial partner: No

Type: Journal Paper
Journal: Bmc Biology , VOL 13

State: Published (Approved)
Published: December 2015
Diamond Proposal Number(s): 8359

Open Access Open Access

Abstract: Collectin-K1 (CL-K1, or CL-11) is a multifunctional Ca2+-dependent lectin with roles in innate immunity, apoptosis and embryogenesis. It binds to carbohydrates on pathogens to activate the lectin pathway of complement and together with its associated serine protease MASP-3 serves as a guidance cue for neural crest development. High serum levels are associated with disseminated intravascular coagulation, where spontaneous clotting can lead to multiple organ failure. Autosomal mutations in the CL-K1 or MASP-3 genes cause a developmental disorder called 3MC (Carnevale, Mingarelli, Malpuech and Michels) syndrome, characterised by facial, genital, renal and limb abnormalities. One of these mutations (Gly204Ser in the CL-K1 gene) is associated with undetectable levels of protein in the serum of affected individuals.

Journal Keywords: Complement Activation; Structural Biology; C-Type Lectin; 3Mc Syndrome

Subject Areas: Biology and Bio-materials

Instruments: I04-1-Macromolecular Crystallography (fixed wavelength)

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