人 DOK7 抗体对
01AB02652
Docking protein 7 (DOK7) is an intracellular adaptor protein and a muscle-intrinsic activator of the muscle-specific receptor tyrosine kinase (MuSK). It is essential for neuromuscular synaptogenesis and the clustering of acetylcholine receptors at the neuromuscular junction. DOK7 contains pleckstrin homology and phosphotyrosine-binding domains that facilitate the dimerization and autophosphorylation of MuSK, initiating downstream signaling through adaptors like Crk and CrkL. This process is critical for organizing postsynaptic specializations. Clinically, pathogenic loss-of-function mutations in DOK7 cause congenital myasthenic syndrome type 10, characterized by limb-girdle-predominant muscle weakness and reduced receptor density at the endplates. Severe mutations are also associated with fetal akinesia deformation sequence.
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技术参数
- 靶点基因名
- DOK7
- 基因别名
- C4orf25
- 蛋白别名
- docking protein 7; DOK7
- UniProt
- Q18PE1
- 物种
- Human
产品详情
- 靶点名称
- DOK7
- 蛋白名称
- docking protein 7
- 蛋白别名
- Protein Dok-7; Downstream of tyrosine kinase 7
- 靶点基因名
- DOK7
- 基因别名
- C4orf25
- UniProt
- Q18PE1
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Docking protein 7 (DOK7) is an intracellular adaptor protein and a muscle-intrinsic activator of the muscle-specific receptor tyrosine kinase (MuSK). It is essential for neuromuscular synaptogenesis and the clustering of acetylcholine receptors at the neuromuscular junction. DOK7 contains pleckstrin homology and phosphotyrosine-binding domains that facilitate the dimerization and autophosphorylation of MuSK, initiating downstream signaling through adaptors like Crk and CrkL. This process is critical for organizing postsynaptic specializations. Clinically, pathogenic loss-of-function mutations in DOK7 cause congenital myasthenic syndrome type 10, characterized by limb-girdle-predominant muscle weakness and reduced receptor density at the endplates. Severe mutations are also associated with fetal akinesia deformation sequence.