Anti-CHD8 Antibody Picoband® Fluoro647 Conjugated

Chromodomain-helicase-DNA-binding protein 8 is an enzyme that in humans is encoded by the CHD8 gene. This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants.

Isoform 1 and isoform 2 are detected in bone marrow cells, spermatogonia and spermatocytes, but not in round spermatids, elongating spermatids and spermatozoa. Isoform 3 is detected in round spermatids, elongating spermatids and spermatozoa, but not in spermatogonia and spermatocytes (at protein level) . Isoform 1 is widely expressed and detected in fetal liver and bone marrow. Isoform 3 is detected in bone marrow cells enriched in hematopoietic stem cells.

G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system and generates a calcium-activated chloride current. Plays an important role in the regulation of synaptic plasticity and the modulation of the neural network activity.

1. An, Y., Zhang, L., Liu, W., Jiang, Y., Chen, X., Lan, X., Li, G., Hang, Q., Wang, J., Gusella, J. F., Du, Y., Shen, Y. De novo variants in the helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth. Hum. Genet. 139: 499-512, 2020. 2. Batsukh, T., Pieper, L., Koszucka, A. M., von Velsen, N., Hoyer-Fender, S., Elbracht, M., Bergman, J. E. H., Hoefsloot, L. H., Pauli, S. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum. Molec. Genet. 19: 2858-2866, 2010. 3. Douzgou, S., Liang, H. W., Metcalfe, K., Somarathi, S., Tischkowitz, M., Mohamed, W., Kini, U., McKee, S., Yates, L., Bertoli, M., Lynch, S. A., Holder, S., the Deciphering Developmental Disorders Study, Banka, S. The clinical presentation caused by truncating CHD8 variants. Clin. Genet. 96: 72-84, 2019.