ETFB

From Wikipedia, the free encyclopedia


Electron-transfer-flavoprotein, beta polypeptide
PDB rendering based on 1efv.
Available structures: 1efv, 1t9g, 2a1t, 2a1u
Identifiers
Symbol(s) ETFB; MADD; FP585
External IDs OMIM: 130410 MGI: 106098 HomoloGene: 1503
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2109 110826
Ensembl ENSG00000105379 ENSMUSG00000004610
Uniprot P38117 Q9DCW4
Refseq NM_001014763 (mRNA)
NP_001014763 (protein)		 XM_001003118 (mRNA)
XP_001003118 (protein)
Location Chr 19: 56.54 - 56.56 Mb Chr 7: 43.31 - 43.33 Mb
Pubmed search [1] [2]

Electron-transfer-flavoprotein, beta polypeptide, also known as ETFB, is a human 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]

[edit] References

  1. ^ a b Entrez Gene: ETFB electron-transfer-flavoprotein, beta polypeptide.

[edit] 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. 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. 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. 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. 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. 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. 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. 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. 
 This article on a gene on chromosome 19 is a stub. You can help Wikipedia by expanding it.