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Gene Review

POF1B  -  premature ovarian failure, 1B

Homo sapiens

Synonyms: FLJ22792, POF, POF2B, Premature ovarian failure protein 1B, Protein POF1B
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High impact information on POF1B


Biological context of POF1B

  • METHODS AND RESULTS: By fine mapping of the X chromosome breakpoint of an X;autosome balanced translocation, we identified a new interrupted gene, POF1B [2].
  • CONCLUSIONS: Our findings could not demonstrate any involvement of POF1B, but suggest that rare mutations in the DACH2 gene may have a role in the POF phenotype [2].
  • By sequencing one candidate gene within that region, POF1B, we identified a point mutation localized in exon 10 [1].

Other interactions of POF1B


  1. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Lacombe, A., Lee, H., Zahed, L., Choucair, M., Muller, J.M., Nelson, S.F., Salameh, W., Vilain, E. Am. J. Hum. Genet. (2006) [Pubmed]
  2. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Bione, S., Rizzolio, F., Sala, C., Ricotti, R., Goegan, M., Manzini, M.C., Battaglia, R., Marozzi, A., Vegetti, W., Dalprà, L., Crosignani, P.G., Ginelli, E., Nappi, R., Bernabini, S., Bruni, V., Torricelli, F., Zuffardi, O., Toniolo, D. Hum. Reprod. (2004) [Pubmed]
  3. X chromosome genes and premature ovarian failure. Bione, S., Toniolo, D. Seminars in reproductive medicine. (2000) [Pubmed]
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