靶标:
GET1
产品别名:
CHD5; WRB; GET1; guided entry of tail-anchored proteins factor 1; guided entry of tail-anchored proteins factor 1; guided entry of tail-anchored proteins factor 1; congenital heart disease 5 protein; tail-anchored protein insertion receptor WRB; tryptophan rich basic protein; 色氨酸丰富蛋白;
背景信息:
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 syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.