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{{Infobox_gene}}
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'''Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)''', also known as '''ETFA''', is a [[protein]] which in humans is encoded by the ''ETFA'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ETFA electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2108| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
ETFA participates in catalyzing the initial step of the [[mitochondrion|mitochondrial]] fatty acid [[beta oxidation]].  It shuttles electrons between primary [[electron-transferring-flavoprotein dehydrogenase|flavoprotein dehydrogenases]] and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in [[glutaric acidemia type 2|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.<ref name="entrez"/>
{{GNF_Protein_box
| image = PBB_Protein_ETFA_image.jpg
  | image_source = [[Protein_Data_Bank|PDB]] rendering based on 1efv.
| PDB = {{PDB2|1efv}}, {{PDB2|1t9g}}, {{PDB2|2a1t}}, {{PDB2|2a1u}}
| Name = Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
| HGNCid = 3481
| Symbol = ETFA
| AltSymbols =; EMA; GA2; MADD
| OMIM = 608053
| ECnumber = 
| Homologene = 100
| MGIid = 106092
| GeneAtlas_image1 = PBB_GE_ETFA_201931_at_tn.png
| Function = {{GNF_GO|id=GO:0009055 |text = electron carrier activity}} {{GNF_GO|id=GO:0050660 |text = FAD binding}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005759 |text = mitochondrial matrix}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}} {{GNF_GO|id=GO:0006810 |text = transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2108
    | Hs_Ensembl = ENSG00000140374
    | Hs_RefseqProtein = NP_000117
    | Hs_RefseqmRNA = NM_000126
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 15
    | Hs_GenLoc_start = 74295646
    | Hs_GenLoc_end = 74390844
    | Hs_Uniprot = P13804
    | Mm_EntrezGene = 110842
    | Mm_Ensembl = ENSMUSG00000032314
    | Mm_RefseqmRNA = NM_145615
    | Mm_RefseqProtein = NP_663590
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 55252660
    | Mm_GenLoc_end = 55310380
    | Mm_Uniprot = Q3THD7
  }}
}}
'''Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)''', also known as '''ETFA''', is a human [[gene]].<ref name="entrez">{{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 = }}</ref>


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==References==
{{PBB_Summary
{{reflist}}
| 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.<ref name="entrez">{{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 = }}</ref>
}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| 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=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  | vauthors=Freneaux E, Sheffield VC, Molin L |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=10.1172/JCI116040 | pmc=443224  |display-authors=etal}}
*{{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  | vauthors=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= | pmc=1683153 }}
*{{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  | vauthors=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  | 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  | 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  | 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  | 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  | 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  | 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  | vauthors=Jones M, Talfournier F, Bobrov A |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 |display-authors=etal}}
*{{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  | 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  | 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  | 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  | 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  | 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  | 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  | vauthors=Kimura K, Wakamatsu A, Suzuki Y |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 | pmc=1356129 |display-authors=etal}}
*{{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  | 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}}
*{{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  | vauthors=Olsen JV, Blagoev B, Gnad F |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 |display-authors=etal}}
*{{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 }}
*{{cite journal  | vauthors=Chiong MA, Sim KG, Carpenter K |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 |display-authors=etal}}
}}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=2108}}
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Latest revision as of 00:38, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II), also known as ETFA, is a protein which in humans is encoded by the ETFA gene.[1]

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.[1]

References

  1. ↑ 1.0 1.1 "Entrez Gene: ETFA electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)".

Further reading



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