Tryptophan Rich Basic Protein (WRB)

WRB is a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

The CHD5 protein has a tryptophan-rich C-terminal region and a potential nuclear localization signal. Northern blot analysis revealed that the gene is widely expressed as 1.4- and 1.6-kb mRNAs. The authors confirmed the mapping of CHD5 to 21q22.3 by analysis of genomic clones from that region and somatic cell hybrids.