Biology:ZFP57
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 Generic protein structure example |
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]
References
- ↑ 1.0 1.1 "Entrez Gene: zinc finger protein 57 homolog (mouse)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=346171.
- ↑ "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. doi:10.1038/ng.187. PMID 18622393.
Further reading
- "A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.". Dev. Cell 15 (4): 547–57. 2008. doi:10.1016/j.devcel.2008.08.014. PMID 18854139.
- "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. doi:10.1073/pnas.242603899. PMID 12477932.
- "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. doi:10.1371/journal.pgen.1000696. PMID 19851445.
- "A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation.". J. Biol. Chem. 269 (9): 6900–7. 1994. PMID 8120052.
- "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. doi:10.1074/jbc.M400415200. PMID 15070898.
- "Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.". Nat. Genet. 40 (8): 949–51. 2008. doi:10.1038/ng.187. PMID 18622393.
- "Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations". Eur J Med Genet 52 (6): 415–6. 2009. doi:10.1016/j.ejmg.2009.07.005. PMID 19632365.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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