HBG1

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Hemoglobin, gamma A
Protein HBG1 PDB 1fdh.png
PDB rendering based on 1fdh.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HBG1 ; HBG-T2; HBGA; HBGR; HSGGL1
External IDs OMIM142200 MGI96024 HomoloGene133561 GeneCards: HBG1 Gene
Orthologs
Species Human Mouse
Entrez 3047 15132
Ensembl ENSG00000213934 ENSMUSG00000052217
UniProt P69891 P04444
RefSeq (mRNA) NM_000559 NM_008219
RefSeq (protein) NP_000550 NP_032245
Location (UCSC) Chr 11:
5.27 – 5.27 Mb
Chr 7:
103.84 – 103.84 Mb
PubMed search [1] [2]

Hemoglobin subunit gamma-1 is a protein that in humans is encoded by the HBG1 gene.[1]

Function[edit]

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) in the year following birth. In the non-pathological condition known as hereditary persistence of fetal hemoglobin (HPFH), gamma globin expression is continued into adulthood. Also, in cases of beta-thalassemia and related conditions, gamma chain production may be maintained, possibly as a mechanism to compensate for the mutated beta-globin. 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' - epsilongamma-Ggamma-Adeltabeta - 3'.[2]

References[edit]

  1. ^ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. PMID 2649166. 
  2. ^ "Entrez Gene: HBG1 hemoglobin, gamma A". 

Further reading[edit]