人 MCFD2 抗体对
01AB00534
MCFD2 is a protein that plays a crucial role in the transport of coagulation factors V and VIII from the endoplasmic reticulum (ER) to the Golgi apparatus. It forms a complex with LMAN1 (ERGIC-53) to act as a cargo receptor for these factors. MCFD2 is a soluble, 16 kDa monomeric protein with two Ca2+-binding EF-hand domains, which are essential for its interaction with LMAN1 and the cargo proteins. Mutations in the MCFD2 gene lead to a recessive bleeding disorder known as combined deficiency of factor V and factor VIII (F5F8D). The MCFD2-LMAN1 complex is critical for the proper secretion of these coagulation factors, and deficiencies in either protein can result in F5F8D. Recent studies have also suggested that MCFD2 may have additional roles beyond coagulation factor transport, including in neural stem cell maintenance and cancer metastasis.
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技术参数
- 靶点基因名
- MCFD2
- 基因别名
- SDNSF
- 蛋白别名
- multiple coagulation factor deficiency 2, ER cargo receptor complex subunit; MCFD2
- UniProt
- Q8NI22
- 物种
- Human
产品详情
- 靶点名称
- MCFD2
- 蛋白名称
- multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
- 蛋白别名
- Multiple coagulation factor deficiency protein 2; Neural stem cell-derived neuronal survival protein
- 靶点基因名
- MCFD2
- 基因别名
- SDNSF
- UniProt
- Q8NI22
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
MCFD2 is a protein that plays a crucial role in the transport of coagulation factors V and VIII from the endoplasmic reticulum (ER) to the Golgi apparatus. It forms a complex with LMAN1 (ERGIC-53) to act as a cargo receptor for these factors. MCFD2 is a soluble, 16 kDa monomeric protein with two Ca2+-binding EF-hand domains, which are essential for its interaction with LMAN1 and the cargo proteins. Mutations in the MCFD2 gene lead to a recessive bleeding disorder known as combined deficiency of factor V and factor VIII (F5F8D). The MCFD2-LMAN1 complex is critical for the proper secretion of these coagulation factors, and deficiencies in either protein can result in F5F8D. Recent studies have also suggested that MCFD2 may have additional roles beyond coagulation factor transport, including in neural stem cell maintenance and cancer metastasis.