Analysis of A-GAMMA3'E Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2202-LGZ)

Introduction

Official Full Name: A-gamma-globin 3' regulatory region<br />Also known as: A-gamma-e<br />This genomic region represents the regulatory element downstream of the hemoglobin subunit gamma 1 (HBG1) gene, also known as the a-gamma gene in the beta-globin gene cluster on chromosome 11. Two elements are defined in this region, an enhancer called Enh and a silencer called f. The enhancer was active in transfection assays in both erythroid leukemia and non-erythroid cell lines, and it may include both positive and negative 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 m the ice . These elements form a hypersensitive region of erythroid DNase I with multiple subsites. This region binds a variety of 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 certain β-thalassemias, along with deletion of the downstream adult β-globin gene.