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COLEC10 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COLEC10 gene

The COLEC10 gene encodes a protein involved in early development and the body's immune response.

Overview

The COLEC10 gene provides instructions for creating a protein known as collectin liver 1 (CL-L1). This protein participates in the lectin complement pathway, which helps direct the migration of cells before birth to form various organs and systems. This pathway is especially critical for the migration of neural crest cells, which contribute to the development of the face, skull, endocrine glands, and portions of the nervous system. Following birth, this pathway plays a role in the immune system.

Health Conditions Related to Genetic Changes

3MC syndrome

At least three COLEC10 gene mutations have been linked to 3MC syndrome, a condition marked by unusual facial features and problems affecting multiple tissues and organs. Mutations in this gene impair or eliminate the function of the CL-L1 protein, resulting in disrupted cell migration during early development. Similar to COLEC11-related cases, researchers suggest that other immune system pathways compensate for the lectin complement pathway, preventing immune system abnormalities in this disorder.

Genomic Location

The COLEC10 gene is found on chromosome 8.

Frequently Asked Questions

COLEC10 mutations are typically autosomal recessive. Heterozygous carriers usually do not show symptoms, but some very rare cases of mild facial features have been reported, suggesting possible incomplete penetrance in certain genetic backgrounds.
Routine growth monitoring, developmental screening, and early speech therapy are advised. Periodic imaging of the skull and endocrine evaluations can detect subtle anomalies. Parents should be educated on signs of feeding difficulties or vision changes, and a genetic counselor should discuss recurrence risks for future pregnancies.
COLEC10 is included in most 3MC‑syndrome or craniofacial dysmorphism panels. A peripheral blood draw is standard, but a buccal swab can also be used if blood collection is not feasible. The panel will sequence the entire coding region and splice sites of COLEC10.
Both genes affect the lectin complement pathway, but COLEC10 mutations tend to produce slightly milder facial features and fewer organ‑system anomalies. Some patients may have isolated craniofacial abnormalities without the broader endocrine or nervous system involvement seen in COLEC11 cases.
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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