Aliases for HBG1 Gene
External Ids for HBG1 Gene
Previous GeneCards Identifiers for HBG1 Gene
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]
GeneCards Summary for HBG1 Gene
HBG1 (Hemoglobin Subunit Gamma 1) is a Protein Coding gene. Diseases associated with HBG1 include Fetal Hemoglobin Quantitative Trait Locus 1 and Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome. Among its related pathways are p70S6K Signaling and IL-2 Pathway. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is ENSG00000284931.
UniProtKB/Swiss-Prot Summary for HBG1 Gene
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.