Aliases for LOC110008579 Gene
External Ids for LOC110008579 Gene
- Entrez Gene: 110008579
This locus represents an enhancer that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). It is immediately downstream of the 3' breakpoint of a deletion found in patients with hereditary persistence of fetal hemoglobin-3 (HPFH-3), and is also close to the 3' breakpoint of the HPFH-4 deletion, 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 this enhancer next to the fetal gamma-globin genes (HBG1 and HBG2) is responsible for the persistent expression of the fetal globin genes in adult blood. Experiments in transfected cells and transgenic mice show that this enhancer can activate gamma-globin gene expression, but not when 3'HS1, which contains enhancer-blocking activity, is present between this enhancer and the gamma-globin promoter. This enhancer also corresponds to a retroviral LTR element, and it is similar to the ERV-9 retroviral enhancer found at the 5' end of the beta-globin locus, just upstream of 5'HS5 in the locus control region. [provided by RefSeq, Apr 2017]
GeneCards Summary for LOC110008579 Gene
LOC110008579 (Hereditary Persistence Of Fetal Hemoglobin-3 3' Breakpoint Enhancer) is a Biological Region gene.