POC1B Antibody

1. Depletion of CEP295 blocks the incorporation of POC5 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. PMID: 27185865
2. Intronic SNP in POC1B/GALNT4 locus (rs11105306) was associated with NT-proBNP levels in patients with acute coronary syndrome (ACS). The POC1B/GALNT4 SNP was not associated with higher risk of cardiovascular death. PMID: 26908625
3. 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 PMID: 26650803
4. 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. PMID: 25044745
5. POC1B is a novel gene for a new disease typical of cone-rod dystrophy except that patients did not report night blindness. PMID: 24945461
6. POC1B mutations result in a defect of the photoreceptor sensory cilium and thus affect cone and rod photoreceptors. PMID: 25018096
7. Poc1A and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression. PMID: 23015594
8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
9. 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 PMID: 20008567
10. Based on these data, we propose that Pix1 and Pix2 are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes. PMID: 18068700

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HGNC: 30836

OMIM: 614784

KEGG: hsa:282809

STRING: 9606.ENSP00000323302

UniGene: Hs.25130