ZFP57
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
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.{{cite web | title = Entrez Gene: zinc finger protein 57 homolog (mouse)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=346171}}
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.
Clinical significance
Mutations in the ZFP57 gene may be associated with transient neonatal diabetes mellitus.{{cite journal |vauthors=Mackay DJ, Callaway JL, Marks SM, etal |title=Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 |journal=Nat. Genet. |volume=40 |issue=8 |pages=949–51 |date=August 2008 |pmid=18622393 |doi=10.1038/ng.187 |s2cid=205344550 }}
References
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Further reading
{{refbegin | 2}}
- {{cite journal |vauthors=Li X, Ito M, Zhou F, etal |title=A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints. |journal=Dev. Cell |volume=15 |issue= 4 |pages= 547–57 |year= 2008 |pmid= 18854139 |doi= 10.1016/j.devcel.2008.08.014 |pmc=2593089}}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Barcellos LF, May SL, Ramsay PP, etal |title=High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. |journal=PLOS Genet. |volume=5 |issue= 10 |pages= e1000696 |year= 2009 |pmid= 19851445 |doi= 10.1371/journal.pgen.1000696 |pmc=2758598 |doi-access=free }}
- {{cite journal |vauthors=Okazaki S, Tanase S, Choudhury BK, etal |title=A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation. |journal=J. Biol. Chem. |volume=269 |issue= 9 |pages= 6900–7 |year= 1994 |doi=10.1016/S0021-9258(17)37460-4 |pmid= 8120052 |doi-access=free }}
- {{cite journal |vauthors=Alonso MB, Zoidl G, Taveggia C, etal |title=Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system. |journal=J. Biol. Chem. |volume=279 |issue= 24 |pages= 25653–64 |year= 2004 |pmid= 15070898 |doi= 10.1074/jbc.M400415200 |doi-access= free }}
- {{cite journal |vauthors=Mackay DJ, Callaway JL, Marks SM, etal |title=Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. |journal=Nat. Genet. |volume=40 |issue= 8 |pages= 949–51 |year= 2008 |pmid= 18622393 |doi= 10.1038/ng.187 |s2cid=205344550 }}
- {{cite journal |vauthors=Spengler S, Gogiel M, Schönherr N, Binder G, Eggermann T | title = Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations | journal = Eur J Med Genet | volume = 52 | issue = 6 | pages = 415–6 | year = 2009 | pmid = 19632365 | doi = 10.1016/j.ejmg.2009.07.005 }}
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{{Transcription factors and intracellular receptors}}
{{NLM content}}
{{gene-6-stub}}