ORC6 Antibody

1. The 11-year-old boy with Meier-Gorlin syndrome (MGS) has a homozygous mutation in origin recognition complex, subunit 6 (ORC6) gene mapped to chromosome 16, and his father with heterozygote carrier of ORC6 gene. PMID: 28186598
2. The present report expands the clinical phenotype associated with ORC6 mutations to include severely abnormal embryological development suggesting a possible genotype-phenotype correlation. PMID: 25691413
3. our results suggest that Meier-Gorlin syndrome mutations in Orc6 impair the formation of ORC hexamers, interfering with appropriate ORC functions PMID: 24137536
4. findings show that Orc6 not only interacts with Orc1-Orc5 but also with the initiation factor Cdc6, and that Orc6 functions at different stages of the replication initiation process. PMID: 21461783
5. Structural analysis of human Orc6 protein reveals a homology with transcription factor TFIIB. PMID: 21502537
6. results implicate Orc6 as an essential gene that coordinates chromosome replication and segregation with cytokinesis PMID: 12169736
7. Study using HCT116 haplo-insufficient cells and Orc2 hypomorphic cells demonstrates that the binding of human Ku to replication origins precedes that of Orc-3, -4, and -6 subunit binding. PMID: 15910003
8. Orc6 has a role in sensitizing human colon cancer cells to 5-fluorouracil and cisplatin PMID: 19112505
9. In a cross-species complementation experiment, the expression of human Orc6 in Drosophila Orc6 mutant cells rescued DNA replication, suggesting that this function of the protein is conserved among metazoans. PMID: 19541634
10. Functional studies of the Drosophila homolog PMID: 11593009
11. Functional studies of the yeast homolog PMID: 8266075

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HGNC: 17151

OMIM: 607213

KEGG: hsa:23594

STRING: 9606.ENSP00000219097

UniGene: Hs.49760