COLEC10 gene
collectin subfamily member 10
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.
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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.
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Cytogenetic Location: 8q24.12, which is the long (q) arm of chromosome 8 at position 24.12
Molecular Location: base pairs 118,952,233 to 119,108,455 on chromosome 8 (Homo sapiens Updated Annotation Release 109.20191205, GRCh38.p13) (NCBI)
Related Information
- 3MC3
- CL-34
- CL-L1
- CLL1
- collectin-10 isoform 1 precursor
- collectin-10 isoform 2
- collectin-34
- collectin liver 1
- collectin liver protein 1
- collectin sub-family member 10 (C-type lectin)
Related Information
- 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.
- OMIM: COLLECTIN 10
- 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.
- 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.
- 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.
- 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.
- 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.