人 PGM3 抗体对
01AB02443
Phosphoglucomutase 3 (PGM3) is a cytosolic enzyme that catalyzes the reversible conversion of N-acetylglucosamine-6-phosphate to N-acetylglucosamine-1-phosphate. This reaction is a fundamental step in the biosynthesis of UDP-GlcNAc, a critical precursor for protein N-glycosylation and the hexosamine biosynthetic pathway. PGM3 possesses a characteristic heart-shaped architecture with four structural domains and a conserved catalytic phosphoserine loop. Biallelic loss-of-function or hypomorphic mutations in PGM3 result in an autosomal recessive congenital disorder of glycosylation characterized by severe immunodeficiency, elevated IgE, recurrent infections, and neurodevelopmental delay. These clinical manifestations reflect the essential role of PGM3-dependent glycosylation in immune cell function and skeletal development.
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技术参数
- 靶点基因名
- PGM3
- 基因别名
- AGM1
- 蛋白别名
- phosphoglucomutase 3; PGM3
- UniProt
- O95394
- 物种
- Human
产品详情
- 靶点名称
- PGM3
- 蛋白名称
- phosphoglucomutase 3
- 蛋白别名
- Phosphoacetylglucosamine mutase; PAGM; Acetylglucosamine phosphomutase; N-acetylglucosamine-phosphate mutase; Phosphoglucomutase-3; PGM 3
- 靶点基因名
- PGM3
- 基因别名
- AGM1
- UniProt
- O95394
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Phosphoglucomutase 3 (PGM3) is a cytosolic enzyme that catalyzes the reversible conversion of N-acetylglucosamine-6-phosphate to N-acetylglucosamine-1-phosphate. This reaction is a fundamental step in the biosynthesis of UDP-GlcNAc, a critical precursor for protein N-glycosylation and the hexosamine biosynthetic pathway. PGM3 possesses a characteristic heart-shaped architecture with four structural domains and a conserved catalytic phosphoserine loop. Biallelic loss-of-function or hypomorphic mutations in PGM3 result in an autosomal recessive congenital disorder of glycosylation characterized by severe immunodeficiency, elevated IgE, recurrent infections, and neurodevelopmental delay. These clinical manifestations reflect the essential role of PGM3-dependent glycosylation in immune cell function and skeletal development.