Gene Review:
B4GALT7 - xylosylprotein beta 1,4...
Homo sapiens
Synonyms:
Beta-1,4-GalTase 7, Beta-1,4-galactosyltransferase 7, Beta4Gal-T7, EDSP1, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7, ...
- A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Faiyaz-Ul-Haque, M., Zaidi, S.H., Al-Ali, M., Al-Mureikhi, M.S., Kennedy, S., Al-Thani, G., Tsui, L.C., Teebi, A.S. Am. J. Med. Genet. A (2004)
- Rapid assay for detection of Escherichia coli xanthine-guanine phosphoribosyltransferase activity in transduced cells. Chu, G., Berg, P. Nucleic Acids Res. (1985)
- Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family. Almeida, R., Levery, S.B., Mandel, U., Kresse, H., Schwientek, T., Bennett, E.P., Clausen, H. J. Biol. Chem. (1999)
- Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). Seidler, D.G., Faiyaz-Ul-Haque, M., Hansen, U., Yip, G.W., Zaidi, S.H., Teebi, A.S., Kiesel, L., Götte, M. J. Mol. Med. (2006)
- Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-->q35.3 by in situ hybridization. Kuroiwa, A., Matsuda, Y., Okajima, T., Furukawa, K. Cytogenet. Cell Genet. (2000)