天门冬酰胺连接糖基化11抗体

2015-01-22 10:17 下载量：0

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天门冬酰胺连接糖基化11抗体 Background: Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain. Involvement in disease:Defects in ALG11 are the cause of congenital disorder of glycosylation type 1P (CDG1P). A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Also known as: Asparagine-linked glycosylation protein 11 homolog; AI849156; alg11; ALG11_HUMAN; Asparagine-linked glycosylation 11; Asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast); GT8; UTP14C.天门冬酰胺连接糖基化11抗体

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上海沪震生物科技有限公司

银牌会员 | 第11年

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