BOC Antibody

1. we report the identification of missense BOC variants in HPE patients. Consistent with these alleles functioning as HPE modifiers, individual variant BOC proteins had either loss- or gain-of-function properties in cell-based SHH signaling assays. PMID: 28677295
2. BOC interacts with ABL and activates JNK thereby promoting neuronal differentiation and neurite outgrowth. PMID: 27871935
3. Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype PMID: 28915250
4. Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner PMID: 20519495
5. Boc receptor is required for segregation of ipsilateral axons at the optic chiasm and, conversely, Boc expression in contralateral retinal ganglion cells prevents their axons from crossing the optic chiasm. PMID: 20053908
6. CDO and BOC play a role in differentiation of cells in the skeletal muscle lineage PMID: 12720294
7. Cdo and Boc bind Shh through a high-affinity interaction with a specific fibronectin repeat that is essential for activity. PMID: 16647304
8. BOC, along with CDO, defines a new subfamily of the immunoglobulin superfamily that is conserved from Drosophila to man. BOC and CDO form a putative receptor complex that stimulates differentiation of myoblasts. PMID: 11782431

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HGNC: 17173

OMIM: 608708

KEGG: hsa:91653

STRING: 9606.ENSP00000347546

UniGene: Hs.591318