The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined.
Down syndrome critical region 3; Down syndrome critical region gene 3; Down syndrome critical region protein 3; Down syndrome critical region protein A; Vacuolar protein sorting-associated protein 26C
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