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top: Vorlagenfix: Entferne veraltete Parameter mit AWB

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{{Infobox Protein
| Name =
| Bild = Protein HBG1 PDB 1fdh.png
| Bild_legende = Struktur des HBG1-Proteins
| PDB =
| Groesse =
| Kofaktor =
| Precursor =
| Struktur =
| Isoformen =
| HGNCid =
| Symbol = HBG1
| AltSymbols = HBGA, HBGR, HSGGL1
| OMIM = 142200
| UniProt =
| MGIid =
| Homolog_fam =
| Taxon =
| Taxon_Ausnahme =
| Orthologe =
}}

Die [[Protein-Untereinheit|Untereinheit]] '''Hemoglobin gamma-1''' ist ein [[Protein]], für welches das beim Menschen vorhandene HBG1-[[Gen]] codiert.<ref name="pmid2649166">{{cite journal | author = Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ | title = A review of the molecular genetics of the human alpha-globin gene cluster | journal = [[Blood (Zeitschrift)|Blood]] | language=en | volume = 73 | issue = 5 | pages = 1081–104 | year = 1989 | month = May | pmid = 2649166 | pmc = | doi = }}</ref>

== Funktion ==
Die gammaglobin-Gene (HBG1 und HBG2) äußern sich normalerweise in der [[fötal]]en [[Leber]], [[Milz]] und [[Knochenmark]]. Zwei gamma-Ketten bilden zusammen mit zwei alpha-Ketten das fötale Hämoglobin ([[HbF]]), welches bei der Geburt normalerweise durch das Hämoglobin Erwachsener ([[Hämoglobin A|HbA]]) ersetzt wird. Bei einigen beta-[[Thalassämie]]n und den damit verbundenen Bedingungen dauert die Produktion von gamma-Ketten auch noch im Erwachsenenalter an. Die zwei Arten von gamma-Ketten unterscheiden sich bei Residuum 136, wo man bei der G-gamma-Produktion (HBG2) [[Glycin]] und bei der A-gamma-Produktion (HBG1) [[Alanin]] vorfindet. Ersteres ist bei der Geburt [[Dominanz (Genetik)|prädominant]]. Die Reihenfolge der Gene im beta-globin [[Gen-Cluster|Cluster]] lautet: 5' - [[HBE1|ε]] – [[HBG2|γ-G]] – γ-A – [[HBD (Protein)|δ]] – [[β-Globin|β]] - 3'.<ref>{{cite web | title = Entrez Gene: HBG1 hemoglobin, gamma A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3047 |language=en | accessdate=2012-05-19}}</ref>

== Einzelnachweise ==
<references></references>

== Literatur ==
*{{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 | language=en |volume=15 |issue= 5 |pages= 349–79 |year= 1992 |pmid= 1802881 |doi=10.3109/03630269108998857 }}
*{{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. | language=en |volume=191 |issue= |pages= 125–39 |year= 1985 |pmid= 2413469 |doi= }}
*{{cite journal | author=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. | language=en |volume=30 |issue= 3 |pages= 165–96 |year= 1995 |pmid= 7555018 |doi=10.3109/10409239509085142 }}
*{{cite journal | author=Anderson NL, Anderson NG |title=The human plasma proteome: history, character, and diagnostic prospects. |journal=Mol. Cell Proteomics | language=en |volume=1 |issue= 11 |pages= 845–67 |year= 2003 |pmid= 12488461 |doi= 10.1074/mcp.R200007-MCP200}}
*{{cite journal | author=Chang JC, Kan YW |title=beta 0 thalassemia, a nonsense mutation in man |journal=[[Proc. Natl. Acad. Sci. USA]] | language=en |volume=76 |issue= 6 |pages= 2886–9 |year= 1979 |pmid= 88735 |doi=10.1073/pnas.76.6.2886 | pmc=383714 }}
*{{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. | language=en |volume=76 |issue= 7 |pages= 3420–4 |year= 1979 |pmid= 291015 |doi=10.1073/pnas.76.7.3420 | pmc=383837 }}
*{{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 Research]]. | language=en |volume=5 |issue= 12 |pages= 4625–30 |year= 1979 |pmid= 318163 |doi= | pmc=342777 }}
*{{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. | language=en |volume=53 |issue= 6 |pages= 347–55 |year= 1975 |pmid= 808940 |doi=10.1159/000208204 }}
*{{cite journal | author=Proudfoot NJ, Brownlee GG |title=3' non-coding region sequences in eukaryotic messenger RNA |journal=[[Nature]] | language=en |volume=263 |issue= 5574 |pages= 211–4 |year= 1976 |pmid= 822353 |doi=10.1038/263211a0 }}
*{{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.]] | language=en |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. | language=en |volume=112 |issue= 1 |pages= 97–112 |year= 1977 |pmid= 881729 |doi=10.1016/S0022-2836(77)80158-7 }}
*{{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]] | language=en |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. | language=en |volume=41 |issue= 4 |pages= 289–91 |year= 1993 |pmid= 1283810 |doi=10.1002/ajh.2830410413 }}
*{{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. | language=en |volume=1 |issue= 2 |pages= 97–135 |year= 1994 |pmid= 1342932 |doi=10.1016/1055-7903(92)90024-B }}
*{{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. | language=en |volume=80 |issue= 4 |pages= 533–8 |year= 1992 |pmid= 1374633 |doi=10.1111/j.1365-2141.1992.tb04569.x }}
*{{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]] | language=en |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 | language=en |volume=16 |issue= 6 |pages= 503–9 |year= 1993 |pmid= 1487421 |doi=10.3109/03630269208993118 }}
*{{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. | language=en |volume=18 |issue= 17 |pages= 5245–53 |year= 1990 |pmid= 1698280 |doi=10.1093/nar/18.17.5245 | pmc=332148 }}
*{{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 | language=en |volume=14 |issue= 2 |pages= 177–83 |year= 1991 |pmid= 1703137 |doi=10.3109/03630269009046959 }}

[[Kategorie:Sauerstofftransporter]]
[[Kategorie:Blutbestandteil]]
[[Kategorie:Codiert auf Chromosom 11 (Mensch)]]

HBG1 - Versionsgeschichte

imported>Antonsusi: /* top */ Vorlagenfix: Entferne veraltete Parameter mit AWB