Structural maintenance of chromosomes protein 1A (SMC1A, SMC1L1, SMC1), a structural maintenance of chromosomes (SMC) protein belongs to the SMC superfamily and is an important constituent of the cohesin complex. This gene is located on human chromosome Xp11.22.
特異性
Anti SMC1L1 (also known as SMC1 and SMC1a) specifically recognizes SMC1L1.
免疫原
synthetic peptide corresponding to amino acids 1210-1225 of human SMC1L1, conjugated to KLH via an N-terminal cysteine residue. The immunizing sequence is conserved in mouse and rat.
應用
Anti-SMC1L1 (C-terminal) antibody produced in rabbit may be used in:
immunoblotting
immunoprecipitation
immunofluorescence
生化/生理作用
Structural maintenance of chromosomes protein 1A (SMC1A, SMC1L1, SMC1) can be phosphorylated by Ataxia-telangiectasia, mutated (ATM) indicating a potential role for this protein in DNA repair. Thus, SMC1L1 phosphorylation appears to be the critical downstream event in the ATM-nibrin (NBS1)-breast cancer type 1 (BRCA1) pathway, which mediates cell survival and chromosomal stabilization after DNA damage. Mutations in SMC1L1 gene result in the Cornelia de Lange syndrome, a multisystem developmental disorder. It participates in chromosome dynamics, double-strand break (DSB) repair and tumorigenesis. This gene can control the cell cycle and helps to maintain the stability of genome. Suppression of SMC1A can block the proliferation and migration of hepatocellular carcinoma cells.
外觀
0.01M 磷酸缓冲盐溶液,pH 7.4,含 15mM 叠氮化钠。
儲存和穩定性
For continuous use, store at 2-8 °C for up to one month. For extended storage, freeze in working aliquots. Repeated freezing and thawing, or storage in “frost-free” freezers, is not recommended. If slight turbidity occurs upon prolonged storage, clarify the solution by centrifugation before use. Working dilutions should be discarded if not used within 12 hours.
免責聲明
Unless otherwise stated in our catalog, our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, limb anomalies, and growth and cognitive deficits. Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately