ZFP57 explained

Zinc finger protein 57 homolog (ZFP57), also known as zinc finger protein 698 (ZNF698), is a protein that in humans is encoded by the ZFP57 gene.^[1]

Function

The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor.^[1]

Clinical significance

Mutations in the ZFP57 gene may be associated with transient neonatal diabetes mellitus.^[2]

Further reading

• Li X, Ito M, Zhou F, etal . A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints. . Dev. Cell . 15 . 4 . 547–57 . 2008 . 18854139 . 10.1016/j.devcel.2008.08.014 . 2593089.
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . free .
• Barcellos LF, May SL, Ramsay PP, etal . High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. . PLOS Genet. . 5 . 10 . e1000696 . 2009 . 19851445 . 10.1371/journal.pgen.1000696 . 2758598 . free .
• Okazaki S, Tanase S, Choudhury BK, etal . A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation. . J. Biol. Chem. . 269 . 9 . 6900–7 . 1994 . 10.1016/S0021-9258(17)37460-4 . 8120052 . free .
• Alonso MB, Zoidl G, Taveggia C, etal . Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system. . J. Biol. Chem. . 279 . 24 . 25653–64 . 2004 . 15070898 . 10.1074/jbc.M400415200 . free .
• Mackay DJ, Callaway JL, Marks SM, etal . Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. . Nat. Genet. . 40 . 8 . 949–51 . 2008 . 18622393 . 10.1038/ng.187 . 205344550 .
• Spengler S, Gogiel M, Schönherr N, Binder G, Eggermann T . Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations . Eur J Med Genet . 52 . 6 . 415–6 . 2009 . 19632365 . 10.1016/j.ejmg.2009.07.005 .

Notes and References

1. Web site: Entrez Gene: zinc finger protein 57 homolog (mouse).
2. Mackay DJ, Callaway JL, Marks SM, etal . Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 . Nat. Genet. . 40 . 8 . 949–51 . August 2008 . 18622393 . 10.1038/ng.187 . 205344550 .