Total Dok-7 Cell-Based Colorimetric ELISA Kit
- 货号：KA3775C
- 应用：ELISA
- 种属：Human;Mouse
- 其他名称：
- Protein Dok-7 (Downstream of tyrosine kinase 7)
- 背景：
- disease:Defects in DOK7 are the cause of familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]; also called congenital myasthenic syndrome type 1B or CMS1B. LGM is a congenital myasthenic syndrome characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.,function:Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.,similarity:Contains 1 IRS-type PTB domain.,similarity:Contains 1 PH domain.,subcellular location:Accumulates at neuromuscular junctions.,subunit:Interacts with the cytoplasmic part of MUSK.,tissue specificity:Preferentiall eypressed in skeletal muscle and heart Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).,
- 细胞定位：
- Cell membrane ; Peripheral membrane protein . Cell junction, synapse . Accumulates at neuromuscular junctions. .
- 组织表达：
- Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).
