C1QL3

Chr 10

complement C1q like 3

Also known as: C1QTNF13, C1ql, CTRP13, K100

NCBI Gene: 389941 ENSG00000165985 UniProt: Q5VWW1 OMIM: 615227

The protein regulates excitatory synapse formation on hippocampal neurons and plays a role in glucose homeostasis by stimulating glucose uptake and reducing glucose production. Mutations cause neurodevelopmental disorders with intellectual disability and seizures, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants, consistent with its role in both neuronal and metabolic function.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable identical protein binding activity. Predicted to be involved in maintenance of synapse structure and trans-synaptic signaling, modulating synaptic transmission. Predicted to act upstream of or within regulation of synapse organization. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space; synapse; and synaptic cleft. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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)

—

P/LP submissions

—

P/LP missense

0.76

LOEUF

Mechanism· predicted