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COLEC11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COLEC11 gene

The COLEC11 gene provides instructions for making a protein essential for early development and immune system function.

Overview

The COLEC11 gene provides instructions for making a protein called collectin kidney 1 (CL-K1). This protein is a key component of the lectin complement pathway, a series of biological steps involved in directing the migration of cells during prenatal development. This process is particularly important for the formation of neural crest cells, which give rise to various tissues in the face, skull, endocrine glands, and parts of the nervous system. After birth, the lectin complement pathway functions as part of the immune system.

Health Conditions Related to Genetic Changes

3MC syndrome

At least nine COLEC11 gene mutations have been identified in individuals with 3MC syndrome, a disorder characterized by unusual facial features and various abnormalities affecting other tissues and organs. These mutations impair or eliminate the function of the CL-K1 protein, leading to faulty control of cell migration during early development. Researchers believe that other immune system pathways may compensate for the lectin complement pathway, which explains why immune system abnormalities are not typically associated with 3MC syndrome.

Genomic Location

The COLEC11 gene is found on chromosome 2.

Frequently Asked Questions

Current evidence suggests that individuals with COLEC11 mutations do not typically experience increased infections, likely because other complement pathways compensate. However, clinicians still monitor for any signs of immune dysfunction, especially if the patient has additional genetic or environmental risk factors.
Patients with COLEC11 mutations often have a distinctive combination of a broad nasal bridge, a flattened midface, and a slightly cleft or recessed lower jaw. Eye features such as epicanthal folds or mild ptosis may also be present. These traits are usually noticeable at birth or within the first few months of life.
clinical geneticist will order a targeted next‑generation sequencing panel that includes COLEC11. The test uses a blood or saliva sample to sequence the gene and identify pathogenic variants. If a variant of uncertain significance is found, functional studies or segregation analysis in family members may be recommended.
There are no disease‑specific drugs yet. Management focuses on multidisciplinary care: early orthodontic evaluation for jaw issues, developmental support for speech and motor skills, and regular ophthalmologic exams for vision problems. Genetic counseling is also recommended for families.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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