Anti-CIC Antibody

Protein capicua homolog is a protein that in humans is encoded by the CIC gene. The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG) -box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013) . In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. This gene is mapped to 19q13.2. Alternative splicing results in multiple transcript variants encoding different isoforms.

Transcriptional repressor which plays a role in development of the central nervous system (CNS) . In concert with ATXN1 and ATXN1L, involved in brain development.

1. Lee, C.-J., Chan, W.-I., Scotting, P. J. CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas. J. Neurooncol. 73: 101-108, 2005. 2. Lu, H.-C., Tan, Q., Rousseaux, M. W. C., Wang, W., Kim, J.-Y., Richman, R., Wan, Y.-W., Yeh, S.-Y., Patel, J. M., Liu, X., Lin, T., Lee, Y., and 25 others.Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nature Genet. 49: 527-536, 2017.

Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.