Anti-TULP3 Antibody Picoband® Fluoro488 Conjugated

This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene.

1. Devane, J., Ott, E., Olinger, E. G., Epting, D., Decker, E., Friedrich, A., Bachmann, N., Renschler, G., Eisenberger, T., Briem-Richter, A., Grabhorn, E. F., Powell, L., and 24 others. Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. Am. J. Hum. Genet. 109: 928-943, 2022. 2. Ikeda, A., Ikeda, S., Gridley, T., Nishina, P. M., Naggert, J. K. Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice. Hum. Molec. Genet. 10: 1325-1334, 2001. 3. Nishina, P. M., North, M. A., Ikeda, A., Yan, Y., Naggert, J. K. Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans. Genomics 54: 215-220, 1998.