CLASP1 Chromosome 2

Cytoplasmic linker associated protein 1
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
TOG domain containing
Locus Type
gene with protein product
Location
2q14.2-q14.3
Ensembl
ENSG00000074054
Associated Conditions (1)
RNU4ATAC spectrum disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS771577373 Health Risk Likely pathogenic RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
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