HBG1
Description
The HBG1 (hemoglobin subunit gamma 1) is a protein-coding gene located on chromosome 11.
The HBG1 gene encodes hemoglobin subunit gamma-1, a protein expressed in the fetal liver, spleen, and bone marrow. It forms fetal hemoglobin (HbF) with two alpha chains, replacing adult hemoglobin (HbA) after birth. In cases of hereditary persistence of fetal hemoglobin (HPFH), gamma globin expression continues into adulthood. Also, in cases of beta-thalassemia and similar conditions, gamma chain production may be maintained, possibly to compensate for mutated beta-globin. The two gamma chain types (G-gamma and A-gamma) differ at residue 136, with glycine in G-gamma (HBG2) and alanine in A-gamma (HBG1). The G-gamma type is predominant at birth. The beta-globin cluster gene order is: 5' - epsilon – gamma-G – gamma-A – delta – beta - 3'.
Gamma chains, along with alpha chains, make up fetal hemoglobin F (Hb F). {ECO:0000269|PubMed:11514664, ECO:0000269|PubMed:22096240, ECO:0000269|PubMed:6198905}
HBG1 is also known as HBG-T2, HBGA, HBGR, HSGGL1, PRO2979.
Associated Diseases
- Delta-beta-thalassemia
- Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- Fetal hemoglobin quantitative trait locus 1
