Structural maintenance of chromosomes protein 1A (SMC1A, SMC1L1, SMC1) protein belongs to the structural maintenance of chromosomes (SMC) superfamily. SMC1A gene is located on human chromosome Xp11.22.
Specificity
Anti-SMC1L1 (also known as SMC1 and SMC1a) specifically recognizes SMC1L1.
Immunogen
synthetic peptide corresponding to amino acids 954-970 of human SMC1L1, conjugated to KLH via an N-terminal cysteine residue. This sequence differs from the corresponding mouse and rat sequences in 2 and 3 amino acids, respectively.
Application
Anti-SMC1L1 antibody produced in rabbit may be used in immunoblotting and immunoprecipitation.
Biochem/physiol Actions
Structural maintenance of chromosomes protein 1A (SMC1A, SMC1L1, SMC1) protein 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. SMC1A protein participates in chromosome dynamics, double-strand break (DSB) repair and tumorigenesis. The gene encoding this protein can control the cell cycle and helps to maintain the stability of genome. Knockdown of SMC1A gene can block the proliferation and migration of hepatocellular carcinoma cells.
Physical form
Solution in 0.01 M phosphate buffered saline, pH 7.4, containing 15 mM sodium azide.
Storage and Stability
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.
Disclaimer
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
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