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The protein encoded by CLUAP1 contains a single coiled-coil region.
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Two variants in CLUAP1 were identified through exome-sequence analysis, Chr16:g.3558407T>G, c.338T>G, p.(Met113Arg) and Chr16:g.3570011C>T, c.688C>T, p.(Arg230Ter). he genetic data show that these variants are present in an affected child, are rare in the population, and result in reduced, but not absent, intraflagellar transport.
Consistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate Leber congenital amaurosis gene
inactivation of CLUAP1 may conceivably serve in the future as a novel therapeutic intervention for treatment of colon cancer
CLUAP1 (clusterin-associated protein 1) is highly expressed in osteosarcoma, ovarian, colon, and lung cancers
a ciliogenesis defect of Cluap1-deficient embryonic fibroblasts was rescued by exogenous expression of wild-type Cluap1 but not by mutant Cluap1 lacking the binding ability to other IFT-B components
Cluap1 contributes to ciliogenesis by regulating the intraflagellar transport cycle at the base and tip of the cilium
We identified a novel mutation in cluap1 and determined that photoreceptor maintenance is dependent on cluap1.
The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms.
clusterin associated protein 1
, clusterin-associated protein 1
, flagellar associated protein 22, qilin-like protein, homolog
, clusterin-associated protein 1 homolog