This gene encodes 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 syndrom congenital heart disease.
Sojka S et al. Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity. Development141:3040-9 (2014).
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Murata K et al. Expression of the congenital heart disease 5/tryptophan rich basic protein homologue gene during heart development in medaka fish, Oryzias latipes. Dev Growth Differ51:95-107 (2009).
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