Aliases for LOC110011217 Gene
External Ids for LOC110011217 Gene
- Entrez Gene: 110011217
This locus represents an enhancer region that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). This region is immediately downstream of the 3' breakpoints of hereditary persistence of fetal hemoglobin-1 (HPFH-1) and HPFH-2 deletions, where both deletions remove the adult beta-globin genes (HBD and HBB) and a 3' DNase I hypersensitive site 1 (3'HS1). In these deletions, it is thought that the juxtaposition of the 3' enhancers next to the fetal gamma-globin genes (HBG1 and HBG2) are responsible for the persistent expression of the fetal globin genes in adult blood. Two enhancer elements and multiple DNase I hypersensitive sites have been identified in this genomic region. Experiments in transfected cells and transgenic mice show that these enhancers can activate fetal gamma-globin gene expression in constructs that juxtapose them with the fetal genes. [provided by RefSeq, Apr 2017]
GeneCards Summary for LOC110011217 Gene
LOC110011217 (Hereditary Persistence Of Fetal Hemoglobin-1 And -2 3' Breakpoint Enhancers) is a Biological Region gene.