功能： catalytic activity:UDP-galactose + O-beta-D-xylosylprotein = UDP + 4-beta-D-galactosyl-O-beta-D-xylosylprotein.,cofactor:Manganese.,disease:Defects in B4GALT7 are the cause of progeroid Ehlers-Danlos syndrome (EDS) [MIM:130070]. EDSP is a variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits.,function:Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.,online information:Beta-1,4-galactosyltransferase 7,online information:GlycoGene database,pathway:Protein modification; protein glycosylation.,similarity:Belongs to the glycosyltransferase 7 family.,subcellular location:Cis cisternae of Golgi stack.,tissue specificity:High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Cis cisternae of Golgi stack.
组织表达： High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.
功能： catalytic activity:UDP-galactose + O-beta-D-xylosylprotein = UDP + 4-beta-D-galactosyl-O-beta-D-xylosylprotein.,cofactor:Manganese.,disease:Defects in B4GALT7 are the cause of progeroid Ehlers-Danlos syndrome (EDS) [MIM:130070]. EDSP is a variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits.,function:Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.,online information:Beta-1,4-galactosyltransferase 7,online information:GlycoGene database,pathway:Protein modification; protein glycosylation.,similarity:Belongs to the glycosyltransferase 7 family.,subcellular location:Cis cisternae of Golgi stack.,tissue specificity:High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Cis cisternae of Golgi stack.
组织表达： High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.
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