GeneID: 7
Names
| Common Name: | Aγ | Type: | Gene |
|---|---|---|---|
| Chromosome: | 11 (NC_000011.10) | Locus: | NG_000007.3 (β-locus) |
| HUGO Symbol: | HBG1 | Full Name: | hemoglobin subunit gamma 1 |
| Exons: | 3 | Introns: | 2 |
Description:
The γ-globin genes (HBG1 and HBG2) are active during fetal growth and are normally expressed in the fetal liver, spleen and bone marrow. The combination of two γ-globin chains and two α-globin chains forms fetal haemoglobin (HbF; α2γ2). HbF is normally replaced by adult haemoglobin (HbA) at birth. The HBG genes are the result of a 5 kb tandem duplication and differ at position 136 of the HBG chain to encode glutamic acid (Gγ; HBG2) or alanine (Aγ; HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-ε(HBE)-Gγ(HBG2)-Aγ(HBG1)-ψβ(HBBP1)-δ(HBD)-β(HBB)-3'.
Synonyms: Gamma-1-globin , Hb F Agamma , Hemoglobin gamma-1 chain , Hemoglobin gamma-A chain , HBGA , HBGR , HSGGL1 , PRO2979
Comments:
N/A
Number of entries/variants: 127
Publications / Origin
- Slightom JL, Blechl AE, Smithies O, Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes., Cell , 21(3), 627-38, 1980
- Shen SH, Slightom JL, Smithies O, A history of the human fetal globin gene duplication., Cell , 26(2), 191-203, 1981
- Haj Khelil A, Morinière M, Laradi S, Khelif A, Perrin P, Ben Chibani J, Baklouti F, Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β0-thalassemia chromosome., Blood Cells Mol. Dis. , 46(2), 133-8, 2011
- Liu Y, Cheng P, Liu ZF, Liu RR, Lai YR, [Methylation status of γ-globin gene promoter in β-thalassemia major]., Zhongguo Shi Yan Xue Ye Xue Za Zhi , 20(3), 642-5, 2012