基因名称(Gene Name)
SMARCB1 BAF47 INI1 SNF5L1
免疫原
Synthesized peptide derived from human INI-1
特异性
This antibody detects endogenous levels of human INI-1. Heat-induced epitope retrieval (HIER) Citrate buffer of pH6.0 was highly recommended as antigen repair method in paraffin section
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Mouse, Monoclonal/IgG2b, Kappa
稀释比例
IHC-p 1:100-500，WB 1:500-2000
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
背景
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015],
功能
disease:Defects in SMARCB1 are a cause of rhabdoid tumor (RDT) [MIM:609322]; also called malignant rhabdoid tumor (MRT). Tumor suppressor. Inactivated in rhabdoid tumors. Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in early childhood. SMARCB1/INI1 is also frequently inactivated in epithelioid sarcomas.,disease:Defects in SMARCB1 are a cause of schwannomatosis [MIM:162091]; also called congenital cutaneous neurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and der
