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Normal Function
The COLEC11 gene provides instructions for making a protein called collectin kidney 1 (CL-K1). This protein is involved in a series of steps called the lectin complement pathway, which is thought to help direct the movement (migration) of cells during development before birth to form the organs and systems of the body. The lectin complement pathway appears to be particularly important in directing the migration of neural crest cells. These cells give rise to various tissues including many tissues in the face and skull, glands that produce hormones (endocrine glands), and portions of the nervous system. After birth, the lectin complement pathway is involved in the immune system.
Health Conditions Related to Genetic Changes
3MC syndrome
At least nine COLEC11 gene mutations have been identified in people with 3MC syndrome, a disorder characterized by unusual facial features and a variety of problems affecting other tissues and organs. The COLEC11 gene mutations that cause 3MC syndrome impair or eliminate the function of the CL-K1 protein, resulting in faulty control of cell migration in early development and leading to the various abnormalities that occur in this disorder. Researchers suggest that similar pathways in the immune system can compensate for problems in the lectin complement pathway, which explains why immune system abnormalities are not part of 3MC syndrome.
More About This Health ConditionOther Names for This Gene
- 3MC2
- CL-K1
- CL-K1-I
- CL-K1-II
- CL-K1-IIa
- CL-K1-IIb
- CLK1
- collectin K1
- collectin kidney protein 1
- MGC3279
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Bayarri-Olmos R, Hansen S, Henriksen ML, Storm L, Thiel S, Garred P, Munthe-Fog L. Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1). PLoS One. 2015 Feb 24;10(2):e0114883. doi: 10.1371/journal.pone.0114883. eCollection 2015. Citation on PubMed or Free article on PubMed Central
- Hansen SW, Ohtani K, Roy N, Wakamiya N. The collectins CL-L1, CL-K1 and CL-P1, and their roles in complement and innate immunity. Immunobiology. 2016 Oct;221(10):1058-67. doi: 10.1016/j.imbio.2016.05.012. Epub 2016 Jun 2. Citation on PubMed
- Henriksen ML, Brandt J, Andrieu JP, Nielsen C, Jensen PH, Holmskov U, Jorgensen TJ, Palarasah Y, Thielens NM, Hansen S. Heteromeric complexes of native collectin kidney 1 and collectin liver 1 are found in the circulation with MASPs and activate the complement system. J Immunol. 2013 Dec 15;191(12):6117-27. doi: 10.4049/jimmunol.1302121. Epub 2013 Oct 30. Citation on PubMed
- Ohtani K, Suzuki Y, Wakamiya N. Biological functions of the novel collectins CL-L1, CL-K1, and CL-P1. J Biomed Biotechnol. 2012;2012:493945. doi: 10.1155/2012/493945. Epub 2012 Apr 11. Citation on PubMed or Free article on PubMed Central
- Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23. Citation on PubMed or Free article on PubMed Central
- Selman L, Hansen S. Structure and function of collectin liver 1 (CL-L1) and collectin 11 (CL-11, CL-K1). Immunobiology. 2012 Sep;217(9):851-63. doi: 10.1016/j.imbio.2011.12.008. Epub 2012 Feb 4. Citation on PubMed
- Venkatraman Girija U, Furze CM, Gingras AR, Yoshizaki T, Ohtani K, Marshall JE, Wallis AK, Schwaeble WJ, El-Mezgueldi M, Mitchell DA, Moody PC, Wakamiya N, Wallis R. Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi: 10.1186/s12915-015-0136-2. Citation on PubMed or Free article on PubMed Central
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