ETFA

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Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
PDB rendering based on 1efv.
Available structures: 1efv, 1t9g, 2a1t, 2a1u
Identifiers
Symbol(s) ETFA; EMA; GA2; MADD
External IDs OMIM: 608053 MGI: 106092 HomoloGene: 100
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2108 110842
Ensembl ENSG00000140374 ENSMUSG00000032314
Uniprot P13804 Q3THD7
Refseq NM_000126 (mRNA)
NP_000117 (protein)		 NM_145615 (mRNA)
NP_663590 (protein)
Location Chr 15: 74.3 - 74.39 Mb Chr 9: 55.25 - 55.31 Mb
Pubmed search [1] [2]

Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II), also known as ETFA, is a human 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]

[edit] References

  1. ^ a b Entrez Gene: ETFA electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II).

[edit] Further reading

  • Frerman FE (1988). "Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase.". Biochem. Soc. Trans. 16 (3): 416–8. PMID 3053288. 
  • Freneaux E, Sheffield VC, Molin L, et al. (1992). "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.". J. Clin. Invest. 90 (5): 1679–86. PMID 1430199. 
  • Indo Y, Glassberg R, Yokota I, Tanaka K (1991). "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.". Am. J. Hum. Genet. 49 (3): 575–80. PMID 1882842. 
  • Finocchiaro G, Ito M, Ikeda Y, Tanaka K (1988). "Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein.". J. Biol. Chem. 263 (30): 15773–80. PMID 3170610. 
  • White RA, Dowler LL, Angeloni SV, Koeller DM (1996). "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.". Genomics 33 (1): 131–4. doi:10.1006/geno.1996.0170. PMID 8617498. 
  • Roberts DL, Frerman FE, Kim JJ (1997). "Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution.". Proc. Natl. Acad. Sci. U.S.A. 93 (25): 14355–60. PMID 8962055. 
  • Bross P, Pedersen P, Winter V, et al. (1999). "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.". Mol. Genet. Metab. 67 (2): 138–47. doi:10.1006/mgme.1999.2856. PMID 10356313. 
  • Jones M, Talfournier F, Bobrov A, et al. (2002). "Electron transfer and conformational change in complexes of trimethylamine dehydrogenase and electron transferring flavoprotein.". J. Biol. Chem. 277 (10): 8457–65. doi:10.1074/jbc.M111105200. PMID 11756429. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Olsen RK, Andresen BS, Christensen E, et al. (2003). "Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.". Hum. Mutat. 22 (1): 12–23. doi:10.1002/humu.10226. PMID 12815589. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Schiff M, Froissart R, Olsen RK, et al. (2006). "Electron transfer flavoprotein deficiency: functional and molecular aspects.". Mol. Genet. Metab. 88 (2): 153–8. doi:10.1016/j.ymgme.2006.01.009. PMID 16510302. 
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. 
  • Chiong MA, Sim KG, Carpenter K, et al. (2007). "Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.". Mol. Genet. Metab. 92 (1-2): 109–14. doi:10.1016/j.ymgme.2007.06.017. PMID 17689999. 
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