ETFA

ETFA

Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II), also known as ETFA, is a human gene.cite web | title = Entrez Gene: ETFA electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2108| accessdate = ]

PBB_Summary
section_title =
summary_text = ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.cite web | title = Entrez Gene: ETFA electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2108| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Frerman FE |title=Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase. |journal=Biochem. Soc. Trans. |volume=16 |issue= 3 |pages= 416–8 |year= 1988 |pmid= 3053288 |doi=
*cite journal | author=Freneaux E, Sheffield VC, Molin L, "et al." |title=Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. |journal=J. Clin. Invest. |volume=90 |issue= 5 |pages= 1679–86 |year= 1992 |pmid= 1430199 |doi=
*cite journal | author=Indo Y, Glassberg R, Yokota I, Tanaka K |title=Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. |journal=Am. J. Hum. Genet. |volume=49 |issue= 3 |pages= 575–80 |year= 1991 |pmid= 1882842 |doi=
*cite journal | author=Finocchiaro G, Ito M, Ikeda Y, Tanaka K |title=Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein. |journal=J. Biol. Chem. |volume=263 |issue= 30 |pages= 15773–80 |year= 1988 |pmid= 3170610 |doi=
*cite journal | author=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 | author=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=
*cite journal | author=Bross P, Pedersen P, Winter V, "et al." |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
*cite journal | author=Jones M, Talfournier F, Bobrov A, "et al." |title=Electron transfer and conformational change in complexes of trimethylamine dehydrogenase and electron transferring flavoprotein. |journal=J. Biol. Chem. |volume=277 |issue= 10 |pages= 8457–65 |year= 2002 |pmid= 11756429 |doi= 10.1074/jbc.M111105200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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
*cite journal | author=Olsen RK, Andresen BS, Christensen E, "et al." |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
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |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
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Schiff M, Froissart R, Olsen RK, "et al." |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
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
*cite journal | author=Chiong MA, Sim KG, Carpenter K, "et al." |title=Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. |journal=Mol. Genet. Metab. |volume=92 |issue= 1-2 |pages= 109–14 |year= 2007 |pmid= 17689999 |doi= 10.1016/j.ymgme.2007.06.017

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