CLASP1

Chr 2

cytoplasmic linker associated protein 1

Also known as: MAST1

NCBI Gene: 23332 ENSG00000074054 UniProt: Q7Z460

CLASP1 encodes a microtubule plus-end tracking protein that stabilizes dynamic microtubules and is essential for proper chromosome alignment during cell division. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.176), suggesting mutations would likely cause severe developmental consequences. However, no specific genetic disorders have been definitively associated with CLASP1 mutations in humans to date.

ResearchSummary from RefSeq, UniProt

CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]

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

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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