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ARID1AA gene on chromosome 1p36.1-p35 that encodes AT-rich interactive domain-containing protein 1, which is highly expressed in the spleen, thymus, prostate, testes, ovaries, small intestine, colon and peripheral leukocytes. ARID1A is involved in transcriptional activation and repression of select genes by chromatin remodelling (by altering DNA-nucleosome topology). It is also involved in vitamin D-coupled transcription regulation by associating with the WINAC complex, a chromatin-remodelling complex recruited by vitamin D receptor.
ARID1A belongs to the neural progenitors-specific chromatin remodelling (npBAF) and the neuron-specific chromatin remodelling (nBAF) complexes, which are involved in switching developing neurons from stem/progenitors to post-mitotic chromatin remodelling as they exit the cell cycle and become committed to their adult state.
Defects in ARID1A cause mental retardation autosomal dominant type 14.