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Overview
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Background
ASCC2 (activating signal cointegrator 1 complex subunit 2), also known as ASC1P100, is a 757 amino acid protein that is ubiquitously expressed and contains one CUE domain. The gene encoding ASCC2 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein BCR-Abl, a potent cell proliferation activator found in several types of leukemias.
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