Recombinant Human Beta-1,4-galactosyltransferase 7 (B4GALT7), partial

1. 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. PMID: 26940150
2. 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. PMID: 24755949
3. identified two key structural features forming stacking interactions with the aglycone, and the hydrogen bond between the His(195) nitrogen backbone and the carbonyl group of the coumarinyl molecule to develop a tight binder of hbeta4GalT7 PMID: 25568325
4. a Michaelis complex of a glycosyltransferase has been described, and it clearly suggests an SN2 type catalytic mechanism for the beta4GalT7 enzyme. PMID: 24052259
5. Two evolutionary conserved motifs, (163)DVD(165) and (221)FWGWGREDDE(230), are central in the organization of the enzyme active site. PMID: 20843813
6. Mutated ennzyme affects glycosaminoglycan synthesis and is involved Ehlers-Danlos syndrome. PMID: 20809901
7. This study establishes the molecular basis for beta4GalT7 defects associated with altered GAG synthesis in Ehlers-Danlos syndrome. PMID: 20691685
8. phosphorylation of Xyl on the C-2 position prevents GalT-I activity PMID: 15522873
9. reduced beta4GalT-7 activity resulting in defective glycosylation of decorin and biglycan may be responsible for the complex molecular pathology in beta4GalT-7 deficient Ehlers-Danlos syndrome patients PMID: 16583246
10. Study suggests an heparan sulfate-dependent basic mechanism behind the altered wound repair phenotype of beta4GalT-7-deficient Ehlers-Danlos syndrome patients. PMID: 18158310

Show More

Hide All

HGNC: 930

OMIM: 130070

KEGG: hsa:11285

STRING: 9606.ENSP00000029410

UniGene: Hs.455109