Gene: HBG1

Alternate names for this Gene: HBG-T2|HBGA|HBGR|HSGGL1|PRO2979

Gene Summary: The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: hemoglobin subunit gamma 1

Type of Gene: protein-coding

rs6578592 in HBG1 gene and Fetal hemoglobin determination PMID 18245381 2008 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.