HBG2

Hemoglobin, gama G
PDB prikaz baziran na 1fdh​.
Dostupne strukture
1FDH​
Identifikatori
Simboli HBG2; TNCY
Vanjski ID OMIM: 142250 HomoloGene: 128032 GeneCards: HBG2 Gene
Ortolozi
Vrsta Čovek Miš
Entrez 3048 15135
Ensembl ENSG00000196565 ENSMUSG00000052187
UniProt P69892 P02104
RefSeq (mRNA) NM_000184 NM_008221
RefSeq (protein) NP_000175 NP_032247
Lokacija (UCSC) Chr 11:
5.27 - 5.67 Mb		 Chr 7:
103.85 - 103.85 Mb
PubMed pretraga [1] [2]

Hemoglobinska podjedinica gama-2 je protein koji je kod čoveka kodiran HBG2 genom.[1]

Funkcija

Gama globin geni (HBG1 i HBG2, ovaj gen) su normalno izraženi u fetalnoj jetri, slezini i koštanoj srži. Dva gama lanca zajedno sa dva alfa lanca sačinjavaju fetalni hemoglobin (HbF) koji se normalno zamenjuje hemoglobinom odraslih osoba (HbA) nakon porođaja. Kod pojedinih tipova beta-talasemije i srodnih oboljenja, produkcija gama lanca se nastavlja. Dva tipa gama lanca se razlikuju po ostatku 136, pri čemu je glicin prisutan u G-gama produktu (HBG2), a alanin u A-gama produktu (HBG1). HBG2 je predominantan tokom porođaja. Drugi geni beta-globinskog clustera su: 5' - epsilon – gama-G – gama-A – delta – beta - 3'.[2]

Reference

  1. ^ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (1989). „A review of the molecular genetics of the human alpha-globin gene cluster”. Blood. 73 (5): 1081—104. PMID 2649166. 
  2. ^ „Entrez Gene: HBG2 hemoglobin, gamma G”. 

Literatura

  • Gelinas R; Yagi M; Endlich B; et al. (1985). „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.”. Prog. Clin. Biol. Res.. 191: 125—39. PMID 2413469. 
  • Anderson NL, Anderson NG (2003). „The human plasma proteome: history, character, and diagnostic prospects.”. Mol. Cell Proteomics. 1 (11): 845—67. PMID 12488461. doi:10.1074/mcp.R200007-MCP200. 

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