ZFP57 : ZFP57 zinc finger protein

Description

The ZFP57 (ZFP57 zinc finger protein) is a protein-coding gene located on chromosome 6.

The ZFP57 gene produces a protein belonging to the zinc finger protein family, which are involved in numerous cellular functions. These proteins contain one or more zinc finger domains, characterized by specific amino acid patterns and zinc ions. Zinc finger proteins primarily bind to DNA, often near specific genes, regulating their activity. They are known as transcription factors. Some zinc finger proteins can also bind to other molecules, including RNA and proteins. The ZFP57 protein regulates other genes through methylation, a process involving the addition of methyl groups to DNA. Methylation is vital for various cellular processes, including determining gene expression, controlling protein and lipid reactions, and regulating neurotransmitter signaling.

ZFP57 is a transcription regulator essential for maintaining both maternal and paternal gene imprinting, a process that ensures genes are expressed only from the parent they originated from. This regulation occurs through epigenetic modifications of DNA and chromatin, primarily DNA methylation. ZFP57 plays a crucial role in controlling DNA methylation at multiple imprinting control regions (ICRs) during the earliest stages of multicellular development. ZFP57 collaborates with ZNF445 in this process, though ZNF445 appears to be the dominant factor in human embryonic imprinting. In contrast, ZFP57 takes on the primary role in imprinting maintenance in mice. Additionally, ZFP57 is required for establishing maternal methylation imprints at the SNRPN locus. It also functions as a transcriptional repressor in Schwann cells. ZFP57 binds to a 5'-TGCCGC-3' consensus sequence, specifically recognizing the methylated CpG within this sequence.

ZFP57 is also known as C6orf40, TNDM1, ZNF698, bA145L22, bA145L22.2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing