MAF
MIM.177075 16q22-q23
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
- The oncogene c-Maf was found to be overexpressed in approximately 50% of multiple myeloma cases, and a role for c-Maf in promoting cyclin D2 expression has been postulated.
- overexpression in angioimmunoblastic T-cell lymphoma (#18059226#)
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#