CALML6

Chr 1

calmodulin like 6

Also known as: CAGLP

NCBI Gene: 163688 ENSG00000169885 UniProt: Q8TD86 OMIM: 610171

The protein is predicted to bind calcium ions and regulate enzymes involved in microtubule cytoskeleton organization, functioning in both the nucleus and cytoplasm. CALML6 mutations cause autosomal recessive developmental and epileptic encephalopathy with progressive microcephaly, presenting in infancy with seizures and severe developmental delays. The gene shows moderate constraint against loss-of-function variants, suggesting tolerance to some degree of functional disruption.

OMIM ResearchSummary from RefSeq

Predicted to enable calcium ion binding activity and enzyme regulator activity. Predicted to be involved in microtubule cytoskeleton organization. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.76

LOEUF

Multiple*

Mechanism· predicted