靶标:
MBD5
产品别名:
MRD1; MBD5; methyl-CpG binding domain protein 5; methyl-CpG binding domain protein 5; methyl-CpG-binding domain protein 5; methyl-CpG-binding protein MBD5;
背景信息:
MBD5 (Methyl-CpG-binding domain 5) is a critical gene for normal development. Microdeletions of 2q23.1 disrupting MBD5 and loss of function mutations of MBD5 cause MBD5-Associated Neurodevelopmental disorders (MAND).MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common set of neurodevelopmental, cognitive, and behavioral impairments. Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by global developmental delay/intellectual disability (ID), severe speech impairment, seizures, sleep disturbances, and abnormal behaviors.
宿主:Rbt
类型:Pab
同种型:IgG
应用:WB
纯化方式:亲和纯化
偶联物:Unconjugated
性状:液体
存储溶液:参阅说明书
浓度:Batch dependent (Please refer to the vial label for the specific concentration.)
稀释比例: Optimal dilutions/concentrations should be determined by the end user
储存:经常使用则4°C保存。-20°C保存不超过两年。避免反复冻融。
注意事项:仅供实验室使用。不适用于人类或动物的任何临床,治疗或诊断用途。不适合动物或人类食用。