Anti-SLC35D1 Antibody Picoband® Fluoro488 Conjugated

Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.

Solute carrier family 2, facilitated glucose transporter member 6; Glucose transporter type 6; GLUT-6; Glucose transporter type 9; GLUT-9; SLC2A6; GLUT9

1. Furuichi, T., Kayserili, H., Hiraoka, S., Nishimura, G., Ohashi, H., Alanay, Y., Lerena, J. C., Aslanger, A. D., Koseki, H., Cohn, D. H., Superti-Furga, A., Unger, S., Ikegawa, S. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J. Med. Genet. 46: 562-568, 2009. 2. Hiraoka, S., Furuichi, T., Nishimura, G., Shibata, S., Yanagishita, M., Rimoin, D. L., Superti-Furga, A., Nikkels, P. G., Ogawa, M., Katsuyama, K., Toyoda, H., Kinoshita-Toyoda, A., Ishida, N., Isono, K., Sanai, Y., Cohn, D. H., Koseki, H., Ikegawa, S. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nature Med. 13: 1363-1367, 2007. 3. Muraoka, M., Kawakita, M., Ishida, N. Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity. FEBS Lett. 495: 87-93, 2001.