ETFB
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.[1]
References
Further reading
- Royal V, Alberts MJ, Pericak-Vance MA, et al. (1991). “RsaI RFLP for electron transport flavoprotein-beta(ETFB)”. Nucleic Acids Res. 19 (14): 4021. doi:10.1093/nar/19.14.4021. PMC 328528. PMID 1677763.
- Colombo I, Finocchiaro G, Garavaglia B, et al. (1994). “Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II”. Hum. Mol. Genet. 3 (3): 429–35. doi:10.1093/hmg/3.3.429. PMID 7912128.
- Antonacci R, Colombo I, Archidiacono N, et al. (1994). “Assignment of the gene encoding the beta-subunit of the electron-transfer flavoprotein (ETFB) to human chromosome 19q13.3”. Genomics. 19 (1): 177–9. doi:10.1006/geno.1994.1035. PMID 8188225.
- Finocchiaro G, Colombo I, Garavaglia B, et al. (1993). “cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein”. Eur. J. Biochem. 213 (3): 1003–8. doi:10.1111/j.1432-1033.1993.tb17847.x. PMID 8504797.
- 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.
- 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.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- 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.
- Wan D, Gong Y, Qin W, et al. (2004). “Large-scale cDNA transfection screening for genes related to cancer development and progression”. Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
- Toogood HS, van Thiel A, Scrutton NS, Leys D (2005). “Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein”. J. Biol. Chem. 280 (34): 30361–6. doi:10.1074/jbc.M505562200. PMID 15975918.
- 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.
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