人 EXTL3 抗体对
01AB01687
Exostosin like glycosyltransferase 3 (EXTL3) is a type II Golgi membrane protein that plays a critical role in the biosynthesis of heparan sulfate (HS) and heparin. It functions as a glycosyltransferase, transferring N-acetyl-α-D-glucosamine to the tetrasaccharide linker of core proteins to initiate and elongate HS chains. Beyond its enzymatic role, EXTL3 serves as a receptor for REG3 family proteins, activating downstream PI3K-AKT and RAS-RAF-MEK-ERK signaling pathways essential for skeletal development and pancreatic islet maturation. Pathogenic variants in EXTL3 cause an autosomal recessive neuro-immuno-skeletal dysplasia syndrome. This condition is characterized by spondyloepimetaphyseal dysplasia, immune deficiency, and neurodevelopmental delay, reflecting the widespread impact of disrupted heparan sulfate-dependent signaling on multiple organ systems.
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技术参数
- 靶点基因名
- EXTL3
- 基因别名
- EXTL1L; EXTR1; KIAA0519
- 蛋白别名
- exostosin like glycosyltransferase 3; EXTL3
- UniProt
- O43909
- 物种
- Human
产品详情
- 靶点名称
- EXTL3
- 蛋白名称
- exostosin like glycosyltransferase 3
- 蛋白别名
- Exostosin-like 3; EXT-related protein 1; Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Hereditary multiple exostoses gene isolog; Multiple exostosis-like protein 3; Putative tumor suppressor protein EXTL3
- 靶点基因名
- EXTL3
- 基因别名
- EXTL1L; EXTR1; KIAA0519
- UniProt
- O43909
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Exostosin like glycosyltransferase 3 (EXTL3) is a type II Golgi membrane protein that plays a critical role in the biosynthesis of heparan sulfate (HS) and heparin. It functions as a glycosyltransferase, transferring N-acetyl-α-D-glucosamine to the tetrasaccharide linker of core proteins to initiate and elongate HS chains. Beyond its enzymatic role, EXTL3 serves as a receptor for REG3 family proteins, activating downstream PI3K-AKT and RAS-RAF-MEK-ERK signaling pathways essential for skeletal development and pancreatic islet maturation. Pathogenic variants in EXTL3 cause an autosomal recessive neuro-immuno-skeletal dysplasia syndrome. This condition is characterized by spondyloepimetaphyseal dysplasia, immune deficiency, and neurodevelopmental delay, reflecting the widespread impact of disrupted heparan sulfate-dependent signaling on multiple organ systems.