功能: disease:Defects in B3GALTL are the cause of Peters-plus syndrome (PPS) [MIM:261540]. PPS is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.,function:O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.,online information:GlycoGene database,pathway:Protein modification; protein glycosylation.,similarity:Belongs to the glycosyltransferase 31 family.,tissue specificity:Widely expressed, with highest levels in testis and uterus.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Endoplasmic reticulum membrane ; Single-pass type II membrane protein .
组织表达: Widely expressed, with highest levels in testis and uterus.
功能: disease:Defects in B3GALTL are the cause of Peters-plus syndrome (PPS) [MIM:261540]. PPS is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.,function:O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.,online information:GlycoGene database,pathway:Protein modification; protein glycosylation.,similarity:Belongs to the glycosyltransferase 31 family.,tissue specificity:Widely expressed, with highest levels in testis and uterus.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Endoplasmic reticulum membrane ; Single-pass type II membrane protein .
组织表达: Widely expressed, with highest levels in testis and uterus.