HBG1

HBG1

Hemoglobin, gamma A, also known as HBG1, is a human gene.

PBB_Summary
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summary_text = 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'. [cite web | title = Entrez Gene: HBG1 hemoglobin, gamma A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3047| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Huisman TH, Kutlar F, Gu LH |title=Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations. |journal=Hemoglobin |volume=15 |issue= 5 |pages= 349–79 |year= 1992 |pmid= 1802881 |doi=
*cite journal | author=Gelinas R, Yagi M, Endlich B, "et al." |title=Sequences of G gamma, A gamma, and beta genes of the Greek (A gamma) HPFH mutant: evidence for a distal CCAAT box mutation in the A gamma gene. |journal=Prog. Clin. Biol. Res. |volume=191 |issue= |pages= 125–39 |year= 1985 |pmid= 2413469 |doi=
*cite journal | author=Higgs DR, Vickers MA, Wilkie AO, "et al." |title=A review of the molecular genetics of the human alpha-globin gene cluster. |journal=Blood |volume=73 |issue= 5 |pages= 1081–104 |year= 1989 |pmid= 2649166 |doi=
*cite journal | author=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. |volume=30 |issue= 3 |pages= 165–96 |year= 1995 |pmid= 7555018 |doi=
*cite journal | author=Anderson NL, Anderson NG |title=The human plasma proteome: history, character, and diagnostic prospects. |journal=Mol. Cell Proteomics |volume=1 |issue= 11 |pages= 845–67 |year= 2003 |pmid= 12488461 |doi=
*cite journal | author=Chang JC, Kan YW |title=beta 0 thalassemia, a nonsense mutation in man. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=76 |issue= 6 |pages= 2886–9 |year= 1979 |pmid= 88735 |doi=
*cite journal | author=Saglio G, Ricco G, Mazza U, "et al." |title=Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia). |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=76 |issue= 7 |pages= 3420–4 |year= 1979 |pmid= 291015 |doi=
*cite journal | author=Poon R, Kan YW, Boyer HW |title=Sequence of the 3'-noncoding and adjacent coding regions of human gamma-globin mRNA. |journal=Nucleic Acids Res. |volume=5 |issue= 12 |pages= 4625–30 |year= 1979 |pmid= 318163 |doi=
*cite journal | author=Grifoni V, Kamuzora H, Lehmann H, Charlesworth D |title=A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2. |journal=Acta Haematol. |volume=53 |issue= 6 |pages= 347–55 |year= 1975 |pmid= 808940 |doi=
*cite journal | author=Proudfoot NJ, Brownlee GG |title=3' non-coding region sequences in eukaryotic messenger RNA. |journal=Nature |volume=263 |issue= 5574 |pages= 211–4 |year= 1976 |pmid= 822353 |doi=
*cite journal | author=Marotta CA, Forget BG, Cohne-Solal M, "et al." |title=Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA. |journal=J. Biol. Chem. |volume=252 |issue= 14 |pages= 5019–31 |year= 1977 |pmid= 873928 |doi=
*cite journal | author=Frier JA, Perutz MF |title=Structure of human foetal deoxyhaemoglobin. |journal=J. Mol. Biol. |volume=112 |issue= 1 |pages= 97–112 |year= 1977 |pmid= 881729 |doi=
*cite journal | author=Ahern E, Holder W, Ahern V, "et al." |title=Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try). |journal=Biochim. Biophys. Acta |volume=393 |issue= 1 |pages= 188–94 |year= 1975 |pmid= 1138921 |doi=
*cite journal | author=Waye JS, Cai SP, Eng B, "et al." |title=Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya. |journal=Am. J. Hematol. |volume=41 |issue= 4 |pages= 289–91 |year= 1993 |pmid= 1283810 |doi=
*cite journal | author=Bailey WJ, Hayasaka K, Skinner CG, "et al." |title=Reexamination of the African hominoid trichotomy with additional sequences from the primate beta-globin gene cluster. |journal=Mol. Phylogenet. Evol. |volume=1 |issue= 2 |pages= 97–135 |year= 1994 |pmid= 1342932 |doi=
*cite journal | author=Gottardi E, Losekoot M, Fodde R, "et al." |title=Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH. |journal=Br. J. Haematol. |volume=80 |issue= 4 |pages= 533–8 |year= 1992 |pmid= 1374633 |doi=
*cite journal | author=Berry M, Grosveld F, Dillon N |title=A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin. |journal=Nature |volume=358 |issue= 6386 |pages= 499–502 |year= 1992 |pmid= 1379347 |doi= 10.1038/358499a0
*cite journal | author=Loudianos G, Moi P, Lavinha J, "et al." |title=Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. |journal=Hemoglobin |volume=16 |issue= 6 |pages= 503–9 |year= 1993 |pmid= 1487421 |doi=
*cite journal | author=Fucharoen S, Shimizu K, Fukumaki Y |title=A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. |journal=Nucleic Acids Res. |volume=18 |issue= 17 |pages= 5245–53 |year= 1990 |pmid= 1698280 |doi=
*cite journal | author=Plaseska D, Kutlar F, Wilson JB, "et al." |title=Hb F-Jiangsu, the first gamma chain variant with a valine----methionine substitution: alpha 2A gamma 2 134(H12)Val----Met. |journal=Hemoglobin |volume=14 |issue= 2 |pages= 177–83 |year= 1991 |pmid= 1703137 |doi=

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