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. This gene is found in this region and multiple transcripts may exist. It is mainly expressed in the placenta.
Gene names and symbols associated with DSCR4
Down syndrome critical region 4 (DSCR4) antibody
Protein level used designations for DSCR4
Down syndrome critical region protein 4
, Down syndrome critical region protein B