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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

VDAC3  -  voltage-dependent anion channel 3

Homo sapiens

Synonyms: HD-VDAC3, Outer mitochondrial membrane protein porin 3, VDAC-3, Voltage-dependent anion-selective channel protein 3, hVDAC3
 
 
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Disease relevance of VDAC3

  • This finding suggests a possible involvement of VDAC3 expression in the early pathogenic events of the mdx muscular dystrophy [1].
 

High impact information on VDAC3

  • To begin to assess the functions of each of the three isoforms, the VDAC3 gene was inactivated by targeted disruption in embryonic stem cells [2].
  • A novel isoform of the mitochondrial outer membrane protein VDAC3 via alternative splicing of a 3-base exon. Functional characteristics and subcellular localization [3].
  • VDAC3, however, is only able to partially complement the mutant phenotype, suggesting an alternative physiologic function for the VDAC3 protein [4].
  • VDAC1 (SWISS-PROT accession number P21796) and VDAC2 (P45880) were unambiguously identified and quantified, but VDAC3 was not found [5].
  • VDAC3 maps to chromosome 12 and VDAC4 maps to chromosome 1 [6].

References

  1. Intracellular localization and isoform expression of the voltage-dependent anion channel (VDAC) in normal and dystrophic skeletal muscle. Massa, R., Marliera, L.N., Martorana, A., Cicconi, S., Pierucci, D., Giacomini, P., De Pinto, V., Castellani, L. J. Muscle Res. Cell. Motil. (2000) [Pubmed]
  2. Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3. Sampson, M.J., Decker, W.K., Beaudet, A.L., Ruitenbeek, W., Armstrong, D., Hicks, M.J., Craigen, W.J. J. Biol. Chem. (2001) [Pubmed]
  3. A novel isoform of the mitochondrial outer membrane protein VDAC3 via alternative splicing of a 3-base exon. Functional characteristics and subcellular localization. Sampson, M.J., Ross, L., Decker, W.K., Craigen, W.J. J. Biol. Chem. (1998) [Pubmed]
  4. The murine voltage-dependent anion channel gene family. Conserved structure and function. Sampson, M.J., Lovell, R.S., Craigen, W.J. J. Biol. Chem. (1997) [Pubmed]
  5. Changes of voltage-dependent anion-selective channel proteins VDAC1 and VDAC2 brain levels in patients with Alzheimer's disease and Down syndrome. Yoo, B.C., Fountoulakis, M., Cairns, N., Lubec, G. Electrophoresis (2001) [Pubmed]
  6. Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms. Blachly-Dyson, E., Baldini, A., Litt, M., McCabe, E.R., Forte, M. Genomics (1994) [Pubmed]
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