CAMSAP1

Chr 9

calmodulin regulated spectrin associated protein 1

Also known as: CDCBM12

NCBI Gene: 157922 ENSG00000130559 UniProt: Q5T5Y3

CAMSAP1 encodes a key microtubule-organizing protein that specifically binds and stabilizes the minus-ends of non-centrosomal microtubules, protecting them from depolymerization and regulating neurite outgrowth through spectrin interactions. Biallelic mutations cause autosomal recessive cortical dysplasia with other brain malformations, affecting cortical development and brain structure. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.24), reflecting its critical role in neurodevelopment.

ResearchSummary from RefSeq, OMIM, UniProt

Enables microtubule minus-end binding activity and spectrin binding activity. Involved in several processes, including neuron projection development; regulation of cell morphogenesis; and regulation of microtubule polymerization. Located in microtubule minus-end. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCortical dysplasia, complex, with other brain malformations 12

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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