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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed February 2011

What is the official name of the ZFP57 gene?

The official name of this gene is “ZFP57 zinc finger protein.”

ZFP57 is the gene's official symbol. The ZFP57 gene is also known by other names, listed below.

What is the normal function of the ZFP57 gene?

The protein produced from the ZFP57 gene is a member of a family called zinc finger proteins, which are involved in many cellular functions. Zinc finger proteins each contain one or more short regions called zinc finger domains. These regions include a specific pattern of protein building blocks (amino acids) and one or more charged atoms of zinc (zinc ions).

Zinc finger proteins attach (bind) primarily to DNA. In most cases, these proteins attach to regions near certain genes and turn the genes on and off as needed. Proteins that bind to DNA and regulate the activity of particular genes are known as transcription factors. Some zinc finger proteins can also bind to other molecules, including RNA (a chemical cousin of DNA) and proteins.

The ZFP57 protein is involved in the regulation of other genes by the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms (methylation). Methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and lipids, and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters).

How are changes in the ZFP57 gene related to health conditions?

6q24-related transient neonatal diabetes mellitus - caused by mutations in the ZFP57 gene

Mutations in the ZFP57 gene cause about 10 percent of cases of 6q24-related transient neonatal diabetes mellitus, a type of diabetes that occurs in infants. This disorder results from the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24.

People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or "turned on," in cells. In some cases, however, only one of the two copies is normally turned on. Which copy is active depends on the parent of origin: some genes are normally active only when they are inherited from a person's father; others are active only when inherited from a person's mother. This phenomenon is known as genomic imprinting.

The 6q24 region includes paternally expressed imprinted genes, which means that normally only the copy of each gene that comes from the father is active. The copy of each gene that comes from the mother is inactivated (silenced) by methylation.

ZFP57 gene mutations cause a generalized impairment of gene silencing called hypomethylation of imprinted loci (HIL), which affects many imprinted regions including the imprinted region of 6q24. The resulting overactivity of genes in the 6q24 region that are involved with the regulation of insulin secretion and the self-destruction of cells (apoptosis) may reduce the number of insulin-secreting beta cells or impair their function in affected individuals. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. A shortage of insulin results in the impaired blood sugar control associated with diabetes mellitus.

Because HIL resulting from ZFP57 gene mutations can affect expression of many imprinted genes, this mechanism may account for the additional health problems that occur in some people with 6q24-related transient neonatal diabetes mellitus, such as malformations of the brain, heart, or kidneys.

Where is the ZFP57 gene located?

Cytogenetic Location: 6p22.1

Molecular Location on chromosome 6: base pairs 29,672,392 to 29,681,146

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The ZFP57 gene is located on the short (p) arm of chromosome 6 at position 22.1.

The ZFP57 gene is located on the short (p) arm of chromosome 6 at position 22.1.

More precisely, the ZFP57 gene is located from base pair 29,672,392 to base pair 29,681,146 on chromosome 6.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about ZFP57?

You and your healthcare professional may find the following resources about ZFP57 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ZFP57 gene or gene products?

  • bA145L22
  • bA145L22.2
  • C6orf40
  • TNDM1
  • zfp-57
  • zinc finger protein 57 homolog
  • zinc finger protein 57 homolog (mouse)
  • zinc finger protein 698
  • ZNF698

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding ZFP57?

acids ; apoptosis ; atom ; chromosome ; diabetes ; diabetes mellitus ; DNA ; expressed ; gene ; gene silencing ; glucose ; imprinting ; inherit ; inherited ; insulin ; ions ; methyl ; methylation ; neonatal ; nervous system ; neurotransmitters ; protein ; RNA ; secretion ; transcription ; transient

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH. Update in neonatal diabetes. Curr Opin Endocrinol Diabetes Obes. 2010 Feb;17(1):13-9. doi: 10.1097/MED.0b013e328334f158. Review. (
  • Hirasawa R, Feil R. A KRAB domain zinc finger protein in imprinting and disease. Dev Cell. 2008 Oct;15(4):487-8. doi: 10.1016/j.devcel.2008.09.006. (
  • Li X, Ito M, Zhou F, Youngson N, Zuo X, Leder P, Ferguson-Smith AC. A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints. Dev Cell. 2008 Oct;15(4):547-57. doi: 10.1016/j.devcel.2008.08.014. (
  • Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11. (
  • Mackay DJ, Temple IK. Transient neonatal diabetes mellitus type 1. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):335-42. doi: 10.1002/ajmg.c.30272. Review. (
  • NCBI Gene (
  • Temple IK, Shield JP. 6q24 transient neonatal diabetes. Rev Endocr Metab Disord. 2010 Sep;11(3):199-204. doi: 10.1007/s11154-010-9150-4. Review. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: February 2011
Published: February 8, 2016