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Required for ciliogenesis (By similarity)..
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Depletion of CEP295 blocks the incorporation of POC5 (zeige POC5 Antikörper) and POC1B into the distal portion of centrioles and suppresses the post-translational modification of centriolar microtubules . Our study thus uncovers a new role for CEP295 during centriole elongation.
Intronic SNP in POC1B/GALNT4 (zeige GALNT4 Antikörper) locus (rs11105306) was associated with NT-proBNP levels in patients with acute coronary syndrome (ACS (zeige PLA2G15 Antikörper)). The POC1B/GALNT4 (zeige GALNT4 Antikörper) SNP was not associated with higher risk of cardiovascular death.
Study found that homozygous POC1B mutation, i.e., c.737C --> T(p.T246 M), cosegregated with the phenotype of a tested family, indicating that POC1B gene was the most possible pathogenic gene for paroxysmal kinesigenic dyskinesia
Study indicates that POC1B is required for retinal integrity, and is proposed POC1B mutations as a probable cause for Joubert syndrome with severe polycystic kidney disease.
POC1B is a novel gene for a new disease typical of cone-rod dystrophy except that patients did not report night blindness.
POC1B mutations result in a defect of the photoreceptor sensory cilium and thus affect cone and rod photoreceptors.
Poc1A (zeige POC1A Antikörper) and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression.
Poc1B is required for primary ciliogenesis; Poc1 provides a molecular link between the assembly and stability of centrioles for ciliary-based motility in T. thermophila and cilia formation and function in zebrafish and humans
Based on these data, we propose that Pix1 and Pix2 (zeige POC1A Antikörper) are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes.
data suggest that poc1b is required for normal development and ciliogenesis of retinal photoreceptor sensory cilia and other cilia
Poc1B knockdown causes ciliary defects & morphological phenotype consistent with ciliopathies; Poc1 provides link between assembly & stability of centrioles for ciliary-based motility in Tetrahymena & cilia formation & function in D rerio & humans
Required for ciliogenesis (By similarity).
POC1 centriolar protein homolog B
, WD repeat-containing protein 51B
, WD repeat domain 51B