Gene Review:
GALNT3 - polypeptide N-acetylgalactosaminyltransfer...
Homo sapiens
Synonyms:
GalNAc-T3, HFTC, HHS, Polypeptide GalNAc transferase 3, Polypeptide N-acetylgalactosaminyltransferase 3, ...
- Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Topaz, O., Shurman, D.L., Bergman, R., Indelman, M., Ratajczak, P., Mizrachi, M., Khamaysi, Z., Behar, D., Petronius, D., Friedman, V., Zelikovic, I., Raimer, S., Metzker, A., Richard, G., Sprecher, E. Nat. Genet. (2004)
- IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics Group. Kristiansen, O.P., Pociot, F., Bennett, E.P., Clausen, H., Johannesen, J., Nerup, J., Mandrup-Poulsen, T. Hum. Mutat. (2000)
- Expression of three UDP-N-acetyl-alpha-D-galactosamine:polypeptide GalNAc N-acetylgalactosaminyltransferases in adenocarcinoma cell lines. Sutherlin, M.E., Nishimori, I., Caffrey, T., Bennett, E.P., Hassan, H., Mandel, U., Mack, D., Iwamura, T., Clausen, H., Hollingsworth, M.A. Cancer Res. (1997)
- Expression of UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase isozyme 3 in the subserosal layer correlates with postsurgical survival of pathological tumor stage 2 carcinoma of the gallbladder. Miyahara, N., Shoda, J., Kawamoto, T., Furukawa, M., Ueda, T., Todoroki, T., Tanaka, N., Matsuo, K., Yamada, Y., Kohno, K., Irimura, T. Clin. Cancer Res. (2004)
- Low expression of polypeptide GalNAc N-acetylgalactosaminyl transferase-3 in lung adenocarcinoma: impact on poor prognosis and early recurrence. Gu, C., Oyama, T., Osaki, T., Li, J., Takenoyama, M., Izumi, H., Sugio, K., Kohno, K., Yasumoto, K. Br. J. Cancer (2004)
- A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis. Topaz, O., Indelman, M., Chefetz, I., Geiger, D., Metzker, A., Altschuler, Y., Choder, M., Bercovich, D., Uitto, J., Bergman, R., Richard, G., Sprecher, E. Am. J. Hum. Genet. (2006)
- Cloning and characterization of a close homologue of human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase-T3, designated GalNAc-T6. Evidence for genetic but not functional redundancy. Bennett, E.P., Hassan, H., Mandel, U., Hollingsworth, M.A., Akisawa, N., Ikematsu, Y., Merkx, G., van Kessel, A.G., Olofsson, S., Clausen, H. J. Biol. Chem. (1999)
- Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of o-glycosylation associated with augmented processing of fibroblast growth factor 23. Frishberg, Y., Ito, N., Rinat, C., Yamazaki, Y., Feinstein, S., Urakawa, I., Navon-Elkan, P., Becker-Cohen, R., Yamashita, T., Araya, K., Igarashi, T., Fujita, T., Fukumoto, S. J. Bone Miner. Res. (2007)
- The Role of Mutant UDP-N-Acetyl-{alpha}-D-Galactosamine-Polypeptide N-Acetylgalactosaminyltransferase 3 in Regulating Serum Intact Fibroblast Growth Factor 23 and Matrix Extracellular Phosphoglycoprotein in Heritable Tumoral Calcinosis. Garringer, H.J., Fisher, C., Larsson, T.E., Davis, S.I., Koller, D.L., Cullen, M.J., Draman, M.S., Conlon, N., Jain, A., Fedarko, N.S., Dasgupta, B., White, K.E. J. Clin. Endocrinol. Metab. (2006)
- The cell-layer- and cell-type-specific distribution of GalNAc-transferases in the ocular surface epithelia is altered during keratinization. Argüeso, P., Tisdale, A., Mandel, U., Letko, E., Foster, C.S., Gipson, I.K. Invest. Ophthalmol. Vis. Sci. (2003)
- Expression of polypeptide GalNAc-transferases in stratified epithelia and squamous cell carcinomas: immunohistological evaluation using monoclonal antibodies to three members of the GalNAc-transferase family. Mandel, U., Hassan, H., Therkildsen, M.H., Rygaard, J., Jakobsen, M.H., Juhl, B.R., Dabelsteen, E., Clausen, H. Glycobiology (1999)
- Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. Campagnoli, M.F., Pucci, A., Garelli, E., Carando, A., Defilippi, C., Lala, R., Ingrosso, G., Dianzani, I., Forni, M., Ramenghi, U. J. Clin. Pathol. (2006)
- N-acetylgalactosaminyl transferase-3 is a potential new marker for non-small cell lung cancers. Dosaka-Akita, H., Kinoshita, I., Yamazaki, K., Izumi, H., Itoh, T., Katoh, H., Nishimura, M., Matsuo, K., Yamada, Y., Kohno, K. Br. J. Cancer (2002)
- cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3. Bennett, E.P., Hassan, H., Clausen, H. J. Biol. Chem. (1996)
- The expression pattern of UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetyl-galactosaminyl transferase-3 in squamous cell carcinoma of the esophagus. Ishikawa, M., Kitayama, J., Kohno, K., Nagawa, H. Pathobiology (2005)
- Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. Specktor, P., Cooper, J.G., Indelman, M., Sprecher, E. J. Hum. Genet. (2006)
- p300/CBP-associated factor (P/CAF) interacts with nuclear respiratory factor-1 to regulate the UDP-N-acetyl-alpha-d-galactosamine: polypeptide N-acetylgalactosaminyltransferase-3 gene. Izumi, H., Ohta, R., Nagatani, G., Ise, T., Nakayama, Y., Nomoto, M., Kohno, K. Biochem. J. (2003)
- Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations in the Glycosyl Transferase Domain of the GALNT3 Gene. Ichikawa, S., Imel, E.A., Sorenson, A.H., Severe, R., Knudson, P., Harris, G.J., Shaker, J.L., Econs, M.J. J. Clin. Endocrinol. Metab. (2006)
- The expression pattern of UDP-N-acetyl-alpha-d-galactosamine: polypeptide N-acetylgalactosaminyl transferase-3 in early gastric carcinoma. Ishikawa, M., Kitayama, J., Nariko, H., Kohno, K., Nagawa, H. Journal of surgical oncology. (2004)
- Use of multiple biomarkers for a molecular diagnosis of prostate cancer. Landers, K.A., Burger, M.J., Tebay, M.A., Purdie, D.M., Scells, B., Samaratunga, H., Lavin, M.F., Gardiner, R.A. Int. J. Cancer (2005)