人 MAN1A1 抗体对
01AB02216
Mannosidase alpha class 1A member 1 (MAN1A1) is a Golgi-resident, single-pass type II transmembrane enzyme belonging to glycosyl hydrolase family 47. It catalyzes the progressive trimming of alpha-1,2-linked mannose residues from Man9GlcNAc2 to Man5GlcNAc2 on Asn-linked oligosaccharides, representing a critical step in glycoprotein maturation and quality control. By facilitating N-linked glycan processing, MAN1A1 ensures proper protein folding and trafficking within the secretory pathway. The enzyme participates in vesicle-mediated transport and subsequent modification of glycoproteins in the Golgi apparatus. Pathogenic variants in MAN1A1 are associated with autosomal recessive Rafiq syndrome, a neurodevelopmental disorder characterized by intellectual disability and speech delay, as well as congenital disorder of glycosylation type In. Disruption of MAN1A1 function leads to defective N-glycan processing and impaired ER-Golgi trafficking, contributing to multisystem pathology.
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技术参数
- 靶点基因名
- MAN1A1
- 蛋白别名
- mannosidase alpha class 1A member 1; MAN1A1
- UniProt
- P33908
- 物种
- Human
产品详情
- 靶点名称
- MAN1A1
- 蛋白名称
- mannosidase alpha class 1A member 1
- 蛋白别名
- Mannosyl-oligosaccharide 1; 2-alpha-mannosidase IA; Man(9)-alpha-mannosidase; Man9-mannosidase; Mannosidase alpha class 1A member 1; Processing alpha-1; 2-mannosidase IA; Alpha-1; 2-mannosidase IA
- 靶点基因名
- MAN1A1
- UniProt
- P33908
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Mannosidase alpha class 1A member 1 (MAN1A1) is a Golgi-resident, single-pass type II transmembrane enzyme belonging to glycosyl hydrolase family 47. It catalyzes the progressive trimming of alpha-1,2-linked mannose residues from Man9GlcNAc2 to Man5GlcNAc2 on Asn-linked oligosaccharides, representing a critical step in glycoprotein maturation and quality control. By facilitating N-linked glycan processing, MAN1A1 ensures proper protein folding and trafficking within the secretory pathway. The enzyme participates in vesicle-mediated transport and subsequent modification of glycoproteins in the Golgi apparatus. Pathogenic variants in MAN1A1 are associated with autosomal recessive Rafiq syndrome, a neurodevelopmental disorder characterized by intellectual disability and speech delay, as well as congenital disorder of glycosylation type In. Disruption of MAN1A1 function leads to defective N-glycan processing and impaired ER-Golgi trafficking, contributing to multisystem pathology.