Anti-OFD1 Antibody Picoband® Fluoro488 Conjugated

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene. This gene is mapped to Xp22.2. This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome.

A synthetic peptide corresponding to a sequence at the C-terminus of human OFD1, which shares 75.9% and 86.2% amino acid (aa) sequence identity with mouse and rat OFD1, respectively.

Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb.

Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation.

1. Coene, K. L. M., Roepman, R., Doherty, D., Afroze, B., Kroes, H. Y., Letteboer, S. J. F., Ngu, L. H., Budny, B., van Wijk, E., Gorden, N. T., Azhimi, M., Thauvin-Robinet, C., Veltman, J. A., Boink, M., Kleefstra, T., Cremers, F. P. M., van Bokhoven, H., de Brouwer, A. P. M. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am. J. Hum. Genet. 85: 465-481, 2009. 2. Morisawa, T., Yagi, M., Surono, A., Yokoyama, N., Ohmori, M., Terashi, H., Matsuo, M. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. Hum. Genet. 115: 97-103, 2004. 3. Tang, Z., Lin, M. G., Stowe, T. R., Chen, S., Zhu, M., Stearns, T., Franco, B., Zhong, Q. Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature 502: 254-257, 2013.