COLEC12

Chr 18

collectin subfamily member 12

Also known as: CLP1, NSR2, SCARA4, SRCL

NCBI Gene: 81035 ENSG00000158270 UniProt: Q5KU26

COLEC12 encodes a scavenger receptor protein that binds carbohydrates on microorganisms to facilitate their recognition and removal, and also mediates recognition and degradation of oxidatively modified lipoproteins by vascular endothelial cells. Mutations cause 3MC syndrome, a rare autosomal recessive disorder characterized by craniofacial dysmorphism, cleft palate, and intellectual disability. The gene is highly constrained against loss-of-function mutations, indicating intolerance to protein disruption.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.35

LOEUF

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Mechanism

Some data sources returned errors (1)

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