Aliases for LOC110013311 Gene
External Ids for LOC110013311 Gene
- Entrez Gene: 110013311
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 located 0.5 kb downstream of the 3' breakpoint of a deletion found in patients with hereditary persistence of fetal hemoglobin-6 (HPFH-6), where the deletion removes one of the fetal globin genes (HBG1), the adult beta-globin genes (HBD and HBB) and a 3' DNase I hypersensitive site 1 (3'HS1). In this deletion, it is thought that the juxtaposition of the enhancer next to the remaining fetal Ggamma-globin gene (HBG2) is responsible for its persistent expression in adult blood. Experiments in transgenic mice show that this enhancer can result in persistent expression of a gamma-globin gene in adult blood. [provided by RefSeq, Apr 2017]
GeneCards Summary for LOC110013311 Gene
LOC110013311 (Hereditary Persistence Of Fetal Hemoglobin-6 3' Breakpoint Enhancer) is a Biological Region gene.