CCDC50 Antibody

1. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] PMID: 27142990
2. Ymer acts as a regulator downstream of several receptors and that Ymer functions as a positive or negative regulator in a signaling pathway-dependent manner. PMID: 22331027
3. identification of a novel DFNA locus on chromosome 3q28-29 in a Spanish family with postlingual and progressive hearing loss[DFNA44] PMID: 12483295
4. Ymer functions as a novel inhibitor for the down-regulation of the EGF receptor and plays a crucial role for regulating the amount of the EGF receptor on the cell surface membrane PMID: 16803894
5. These findings demonstrate that Ymer is likely to be a negative regulator for the NF-kappaB signaling pathway. PMID: 19059208
6. CCDC50 is required for survival in mantle cell lymphoma and chronic lymphocytic leukemia cells and controls NFkappaB signaling PMID: 19641524

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HGNC: 18111

OMIM: 607453

KEGG: hsa:152137

UniGene: Hs.478682