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anti-Rat (Rattus) B4GALT7 Antikörper:
anti-Human B4GALT7 Antikörper:
anti-Mouse (Murine) B4GALT7 Antikörper:
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The phenotypes described in this article caused by bi-allelic mutations in B4GALT7 would benefit from reclassification and loss of its current association with PEDS. These conditions would be better grouped with the other linkeropathies.
Our findings demonstrate that B4GALT7 is the causative gene for LRS. The identification of a unique homozygous mutation argues in favor of a founder effect. B4GALT7 encodes a galactosyltransferase.
a Michaelis complex of a glycosyltransferase (zeige GTDC2 Antikörper) has been described, and it clearly suggests an SN2 (zeige Slc38a5 Antikörper) type catalytic mechanism for the beta4GalT7 enzyme.
phosphorylation of Xyl on the C-2 position prevents GalT (zeige GALT Antikörper)-I activity
reduced beta4GalT-7 activity resulting in defective glycosylation of decorin (zeige DCN Antikörper) and biglycan (zeige BGN Antikörper) may be responsible for the complex molecular pathology in beta4GalT-7 deficient Ehlers-Danlos syndrome patients
surface GalT (zeige GALT Antikörper) I might negatively regulate mammary epithelial cell survival
This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome.
, xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
, xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7
, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7
, beta-1,4-GalTase 7
, beta-1,4-galactosyltransferase VII
, galactosyltransferase I
, proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I