ETFA

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/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.

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.

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. doi:10.1172/JCI116040. PMC 443224. 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. PMC 1683153. 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. doi:10.1073/pnas.93.25.14355. PMC 26136. 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. PMC 139241. 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. PMC 528928. 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. PMC 1356129. 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.