Function
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically.
Biological Context
Subcellular Location: Nucleus
Tissue Specificity: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas
Disease Association: Coffin-Siris syndrome 2 (CSS2) : A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human AT-rich interactive domain-containing protein 1A (ARID1A), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1976-2231aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 33.4kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
