rs1847875213

About A-GAMMA3'E

This genomic region represents regulatory elements that exist downstream of the hemoglobin subunit gamma 1 (HBG1) gene, which is also referred to as the A-gamma gene within the beta-globin gene cluster on chromosome 11. Two elements have been defined in this region, an enhancer termed Enh and a silencer termed F. The enhancer was shown to be active by transfection assays in both erythroleukemia and non-erythroid cell lines, and it may include both positively- and negatively-acting components. Both the Enh and F elements can negatively regulate transcription at the beta-globin locus in an embryonic-specific manner in some transgenic contexts, though they are not required for developmental switching from fetal gamma-globin to adult beta-globin gene expression in transgenic mice. These elements form an erythroid DNase I hypersensitive region with multiple sub-sites. This region can bind to multiple proteins, including the matrix-associated factor SATB1, the HOXB2 transcription factor and the erythroid GATA-1 binding protein. Mutations in this region may result in increased gamma-globin gene expression. These elements are deleted in some beta-thalassemia deletions that also remove the downstream adult beta-globin genes. [provided by RefSeq, Mar 2017]