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Gene Review

ETFB  -  electron-transfer-flavoprotein, beta...

Homo sapiens

Synonyms: Beta-ETF, Electron transfer flavoprotein subunit beta, FP585, MADD
 
 
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High impact information on ETFB

  • Assignment of the gene encoding the beta-subunit of the electron-transfer flavoprotein (ETFB) to human chromosome 19q13.3 [1].
  • The majority of patients had mutations in the ETFA gene while only two of them harboured mutations in the ETFB gene [2].
  • In agreement with these findings, mutational analysis of the ETF/ETFDH genes demonstrated an ETFB missense mutation 124T>C in exon 2 leading to replacement of cysteine-42 with arginine (C42R), and a 604_606AAG deletion in exon 6 in the ETFB gene resulting in the deletion of lysine-202 (K202del) [3].
  • 4. The position of the LIM2 gene appears to be within 40 kb of the electron transport flavoprotein gene (ETFB) as a cosmid containing sequences from both genes has been identified [4].
 

Biological context of ETFB

References

  1. Assignment of the gene encoding the beta-subunit of the electron-transfer flavoprotein (ETFB) to human chromosome 19q13.3. Antonacci, R., Colombo, I., Archidiacono, N., Volta, M., DiDonato, S., Finocchiaro, G., Rocchi, M. Genomics (1994) [Pubmed]
  2. Electron transfer flavoprotein deficiency: functional and molecular aspects. Schiff, M., Froissart, R., Olsen, R.K., Acquaviva, C., Vianey-Saban, C. Mol. Genet. Metab. (2006) [Pubmed]
  3. Late-onset form of beta-electron transfer flavoprotein deficiency. Curcoy, A., Olsen, R.K., Ribes, A., Trenchs, V., Vilaseca, M.A., Campistol, J., Osorio, J.H., Andresen, B.S., Gregersen, N. Mol. Genet. Metab. (2003) [Pubmed]
  4. Assignment of the human lens fiber cell MP19 gene (LIM2) to chromosome 19q13.4, and adjacent to ETFB. Lieuallen, K., Christensen, M., Brandriff, B., Church, R., Wang, J., Lennon, G. Somat. Cell Mol. Genet. (1994) [Pubmed]
 
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