Anti-SPECC1L Antibody Picoband® Fluoro550 Conjugated

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding.

Scaffolding protein that specifically recognizes and binds dimethylarginine-containing proteins. In nucleus, acts as a coactivator: recognizes and binds asymmetric dimethylation on the core histone tails associated with transcriptional activation (H3R17me2a and H4R3me2a) and recruits proteins at these arginine-methylated loci. In cytoplasm, may play a role in the assembly and/or disassembly of mRNA stress granules and in the regulation of translation of target mRNAs by binding Arg/Gly-rich motifs (GAR) in dimethylarginine-containing proteins.

1. Allanson, J. E. G syndrome: an unusual family. Am. J. Med. Genet. 31: 637-642, 1988. 2. Bhoj, E. J., Haye, D., Toutain, A., Bonneau, D., Nielsen, I. K., Lund, I. B., Bogaard, P., Leenskjold, S., Karaer, K., Wild, K. T., Grand, K. L., Astiazaran, M. C., and 16 others. Phenotypic spectrum associated with SPEC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. Europ. J. Med. Genet. 62: 103588, 2019. 3. Bhoj, E. J., Li, D., Harr, M. H., Tian, L., Wang, T., Zhao, Y., Qiu, H., Kim, C., Hoffman, J. D., Hakonarson, H., Zackai, E. H. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. Am. J. Med. Genet. 167A: 2497-2502, 2015.