Anti-IFT43 Antibody Picoband® Fluoro647 Conjugated

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A) . IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Expressed in immature but not mature T-cells. Also found in CD34+ cells from peripheral blood, CD34+ precursors from umbilical cord blood and adult bone marrow.

1. Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J. Med. Genet. 48: 390-395, 2011. 2. Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, J. F., Riazuddin, S. A., Ayyagari, R. A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum. Molec. Genet. 26: 4741-4751, 2017. 3. Duran, I., Taylor, S. P., Zhang, W., Martin, J., Qureshi, F., Jacques, S. M., Wallerstein, R., Lachman, R. S., Nickerson, D. A., Bamshad, M., Cohn, D. H., Krakow, D. Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia 6: 7, 2017. Note: Electronic Article.