sábado, 12 de diciembre de 2015

COLEC11 - collectin subfamily member 11 - Genetics Home Reference

COLEC11 - collectin subfamily member 11 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


Reviewed December 2015

What is the official name of the COLEC11 gene?

The official name of this gene is “collectin subfamily member 11.”
COLEC11 is the gene's official symbol. The COLEC11 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the COLEC11 gene?

The COLEC11 gene provides instructions for making a protein called CL-K1. This protein is involved in a series of reactions called the lectin complement pathway, which is thought to help direct the movement (migration) of cells during early 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, which 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.

Does the COLEC11 gene share characteristics with other genes?

The COLEC11 gene belongs to a family of genes called COLEC (collectins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the COLEC11 gene related to health conditions?

3MC syndrome - caused by mutations in the COLEC11 gene
At least five 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 of the body. 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 embryonic development and leading to the various abnormalities that occur in this disorder. Researchers suggest that the existence of parallel pathways in the immune system that can compensate for problems in the lectin complement pathway account for the absence of immune system problems in 3MC syndrome.

Where is the COLEC11 gene located?

Cytogenetic Location: 2p25.3
Molecular Location on chromosome 2: base pairs 3,594,832 to 3,644,644
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)
The COLEC11 gene is located on the short (p) arm of chromosome 2 at position 25.3.
The COLEC11 gene is located on the short (p) arm of chromosome 2 at position 25.3.
More precisely, the COLEC11 gene is located from base pair 3,594,832 to base pair 3,644,644 on chromosome 2.

Where can I find additional information about COLEC11?

You and your healthcare professional may find the following resources about COLEC11 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the COLEC11 gene or gene products?

  • 3MC2
  • CLK1
  • CL-K1
  • CL-K1-I
  • CL-K1-II
  • CL-K1-IIa
  • CL-K1-IIb
  • collectin K1
  • collectin kidney protein 1
  • MGC3279

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding COLEC11?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook

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