URL of this page: https://medlineplus.gov/genetics/gene/colec10/

COLEC10 gene

collectin subfamily member 10
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Normal Function

The COLEC10 gene provides instructions for making a protein called collectin liver 1 (CL-L1). 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 three COLEC10 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 COLEC10 gene mutations that cause 3MC syndrome impair or eliminate the function of the CL-L1 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 Condition

Other Names for This Gene

  • 3MC3
  • CL-34
  • CL-L1
  • CLL1
  • collectin liver 1
  • collectin liver protein 1
  • collectin sub-family member 10 (C-type lectin)
  • collectin-10 isoform 1 precursor
  • collectin-10 isoform 2
  • collectin-34

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

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. Review. 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
  • Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. eCollection 2017 Mar. Citation on PubMed or Free article on PubMed Central
  • 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. Review. 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. Review. Citation on PubMed
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