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MAF

MIM.177075 16q22-q23

Saturday 14 May 2005

The deduced amino acid sequence of the v-maf gene product contains a leucine zipper motif similar to that found in a number of DNA binding proteins, including the gene products of the FOS (MIM.164810), JUN (MIM.165160), and MYC (MIM.190080) oncogenes.

Pathology

- germline mutations in ocular malformations

  • cataract
  • ocular anterior segment dysgenesis
  • coloboma
  • microphtalmia

- overexpression in tumors

References

- Blank, V.; Andrews, N. C. The Maf transcription factors: regulators of differentiation. Trends Biochem. Sci. 22: 437-441, 1997. PMID : 9397686

- Jamieson, R. V.; Perveen, R.; Kerr, B.; Carette, M.; Yardley, J.; Heon, E.; Wirth, M. G.; van Heyningen, V.; Donnai, D.; Munier, F.; Black, G. C. M. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum. Molec. Genet. 11: 33-42, 2002. PMID : 11772997