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词条 ETFB
释义

  1. References

  2. Further reading

{{Underlinked|date=May 2016}}{{Infobox_gene}}Electron transfer flavoprotein subunit beta is a protein that in humans is encoded by the ETFB gene.[1]

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene.[2]

References

1. ^{{cite web | title = Entrez Gene: ETFB electron-transfer-flavoprotein, beta polypeptide| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2109| accessdate = }}
2. ^{{cite web | title = Entrez Gene: ETFB electron-transfer-flavoprotein, beta polypeptide| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2109| accessdate = }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors=Royal V, Alberts MJ, Pericak-Vance MA |title=RsaI RFLP for electron transport flavoprotein-beta(ETFB). |journal=Nucleic Acids Res. |volume=19 |issue= 14 |pages= 4021 |year= 1991 |pmid= 1677763 |doi=10.1093/nar/19.14.4021 | pmc=328528 |display-authors=etal}}
  • {{cite journal | vauthors=Colombo I, Finocchiaro G, Garavaglia B |title=Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. |journal=Hum. Mol. Genet. |volume=3 |issue= 3 |pages= 429–35 |year= 1994 |pmid= 7912128 |doi=10.1093/hmg/3.3.429 |display-authors=etal}}
  • {{cite journal | vauthors=Antonacci R, Colombo I, Archidiacono N |title=Assignment of the gene encoding the beta-subunit of the electron-transfer flavoprotein (ETFB) to human chromosome 19q13.3. |journal=Genomics |volume=19 |issue= 1 |pages= 177–9 |year= 1994 |pmid= 8188225 |doi= 10.1006/geno.1994.1035 |display-authors=etal}}
  • {{cite journal | vauthors=Finocchiaro G, Colombo I, Garavaglia B |title=cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein. |journal=Eur. J. Biochem. |volume=213 |issue= 3 |pages= 1003–8 |year= 1993 |pmid= 8504797 |doi=10.1111/j.1432-1033.1993.tb17847.x |display-authors=etal}}
  • {{cite journal | vauthors=White RA, Dowler LL, Angeloni SV, Koeller DM |title=Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. |journal=Genomics |volume=33 |issue= 1 |pages= 131–4 |year= 1996 |pmid= 8617498 |doi= 10.1006/geno.1996.0170 }}
  • {{cite journal | vauthors=Roberts DL, Frerman FE, Kim JJ |title=Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 25 |pages= 14355–60 |year= 1997 |pmid= 8962055 |doi=10.1073/pnas.93.25.14355 | pmc=26136 }}
  • {{cite journal | vauthors=Bross P, Pedersen P, Winter V |title=A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation. |journal=Mol. Genet. Metab. |volume=67 |issue= 2 |pages= 138–47 |year= 1999 |pmid= 10356313 |doi= 10.1006/mgme.1999.2856 |display-authors=etal}}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
  • {{cite journal | vauthors=Olsen RK, Andresen BS, Christensen E |title=Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. |journal=Hum. Mutat. |volume=22 |issue= 1 |pages= 12–23 |year= 2003 |pmid= 12815589 |doi= 10.1002/humu.10226 |display-authors=etal}}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal | vauthors=Wan D, Gong Y, Qin W |title=Large-scale cDNA transfection screening for genes related to cancer development and progression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 44 |pages= 15724–9 |year= 2004 |pmid= 15498874 |doi= 10.1073/pnas.0404089101 | pmc=524842 |display-authors=etal}}
  • {{cite journal | vauthors=Toogood HS, van Thiel A, Scrutton NS, Leys D |title=Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein. |journal=J. Biol. Chem. |volume=280 |issue= 34 |pages= 30361–6 |year= 2005 |pmid= 15975918 |doi= 10.1074/jbc.M505562200 }}
  • {{cite journal | vauthors=Schiff M, Froissart R, Olsen RK |title=Electron transfer flavoprotein deficiency: functional and molecular aspects. |journal=Mol. Genet. Metab. |volume=88 |issue= 2 |pages= 153–8 |year= 2006 |pmid= 16510302 |doi= 10.1016/j.ymgme.2006.01.009 |display-authors=etal}}
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