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B4GALT7 Rabbit pAb (bs-9728R)  
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50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包装/询价
产品编号 bs-9728R
英文名称 B4GALT7 Rabbit pAb
中文名称 半乳糖转移酶7亚基β1,4抗体
别    名 EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT; XGPT1; B4GT7_HUMAN; B4GALT7; Beta-1,4-GalTase 7; Beta4Gal-T7; b4Gal-T7; Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7; UDP-galactose:beta-  
研究领域 细胞生物  免疫学  信号转导  细胞周期蛋白  细胞分化  细胞骨架  细胞外基质  
抗体来源 Rabbit
克隆类型 Polyclonal
克 隆 号
交叉反应 Human,Mouse
产品应用 WB=1:500-2000,ELISA=1:5000-20000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理论分子量 37 kDa
细胞定位 细胞浆 细胞膜 
性    状 Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human B4GALT7: 201-300/327 
亚    型 IgG
纯化方法 affinity purified by Protein A
缓 冲 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存条件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
产品介绍 β-1,4-galactosyltransferases (β-1,4-Gal-T) are type II membrane-bound glycoproteins that are substrate-specific and function to transfer galactose in a β-1,4 linkage to an acceptor sugar. There are seven members of the β-1,4-Gal-T family, all of which are directed to the golgi apparatus through a hydrophobic sequence at the N-terminus. β-1,4-Gal-T7, also known as B4GALT7 or XGALT1, is a 327 amino acid single-pass type II membrane protein that is expressed at high levels in heart, pancreas and liver. β-1,4-Gal-T7 uses manganese to catalyze the UDP-dependent biosynthesis of glycosphingolipids. The gene encoding β-1,4-Gal-T7 is mutated in Ehlers-Danlos syndrome progeroid type (EDSP), 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.β-1,4-galactosyltransferases (β-1,4-Gal-T) are type II membrane-bound glycoproteins that are substrate-specific and function to transfer galactose in a ∫-1,4 linkage to an acceptor sugar. There are seven members of the β-1,4-Gal-T family, all of which are directed to the golgi apparatus through a hydrophobic sequence at the N-terminus. β-1,4-Gal-T7, also known as B4GALT7 or XGALT1, is a 327 amino acid single-pass type II membrane protein that is expressed at high levels in heart, pancreas and liver. β-1,4-Gal-T7 uses manganese to catalyze the UDP-dependent biosynthesis of glycosphingolipids. The gene encoding β-1,4-Gal-T7 is mutated in Ehlers-Danlos syndrome progeroid type (EDSP), 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.-1,4-galactosyltransferases (β-1,4-Gal-T) are type II membrane-bound glycoproteins that are substrate-specific and function to transfer galactose in a ∫-1,4 linkage to an acceptor sugar. There are seven members of the β-1,4-Gal-T family, all of which are directed to the golgi apparatus through a hydrophobic sequence at the N-terminus. β-1,4-Gal-T7, also known as B4GALT7 or XGALT1, is a 327 amino acid single-pass type II membrane protein that is expressed at high levels in heart, pancreas and liver. β-1,4-Gal-T7 uses manganese to catalyze the UDP-dependent biosynthesis of glycosphingolipids. The gene encoding β-1,4-Gal-T7 is mutated in Ehlers-Danlos syndrome progeroid type (EDSP), 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.

Subcellular Location:
Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note: 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.

DISEASE:
Defects in B4GALT7 are the cause of Ehlers-Danlos syndrome progeroid type (EDSP) [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.

Similarity:
Belongs to the glycosyltransferase 7 family.

SWISS:
Q9UBV7

Gene ID:
11285

Database links:

Entrez Gene: 11285 Human

Omim: 604327 Human

SwissProt: Q9UBV7 Human



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