HBG1 Chromosome 11
Hemoglobin subunit gamma 1
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What This Gene Does
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'. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Hemoglobin subunits
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000213934
Associated Conditions (4)
Hereditary persistence of fetal hemoglobin
Sardinian HPFH
Greek HPFH
British HPFH
Key Variants
RS770330940
Conflicting classifications of pathogenicity
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
RS1554921759
Pathogenic
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
RS281860601
Pathogenic
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
RS35321913
Pathogenic
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
RS35378915
Pathogenic
Sardinian HPFH, Greek HPFH, Hereditary persistence of fetal hemoglobin
Health Risk
RS35710727
Pathogenic
British HPFH, Hereditary persistence of fetal hemoglobin, British HPFH
Health Risk
RS35983258
Pathogenic
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS770330940 | Health Risk | Conflicting classifications of pathogenicity | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS1554921759 | Health Risk | Pathogenic | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS281860601 | Health Risk | Pathogenic | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS35321913 | Health Risk | Pathogenic | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS35378915 | Health Risk | Pathogenic | Sardinian HPFH, Greek HPFH, Hereditary persistence of fetal hemoglobin |
| RS35710727 | Health Risk | Pathogenic | British HPFH, Hereditary persistence of fetal hemoglobin, British HPFH |
| RS35983258 | Health Risk | Pathogenic | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |