ZFP57 Antibody – Rabbit Polyclonal

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. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]

ZFP57: Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions. Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Defects in ZFP57 are the cause of transient neonatal diabetes mellitus type 1 (TNDM1). Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to- severe hyperglycemia within the first months of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. The major cause of TNDM1 is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the transient neonatal diabetes differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene. Over 50% of individuals with transient neonatal diabetes and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Belongs to the krueppel C2H2-type zinc-finger protein family. ZFP57 subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription factor; C2H2-type zinc finger protein

Chromosomal Location of Human Ortholog: 6p22.1

Cellular Component: nuclear heterochromatin

Molecular Function: DNA binding; metal ion binding

Biological Process: genetic imprinting; transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; DNA methylation during embryonic development; peripheral nervous system development

Disease: Diabetes Mellitus, Transient Neonatal, 1