Recombinant fragment: PSFSSFMSRV LQKDAEQESQ MRAEIQDMKQ ELSTVNMMDE FARYARLERK NKMTDKLKTH VKARTAQLAK IK, corresponding to amino acids 29 - 101 of Human Tryptophan rich protein (NP_004618) with a 26 kDa tag
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.
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