DPF2

DPF2 (also known as Ubiquitin-like PHD and RING finger domain-containing protein 1) is a protein that in humans is encoded by the DPF2 gene. It is a member of the neural zinc finger factor family and plays a crucial role in the regulation of gene expression.

Function

DPF2 is a multi-domain protein that contains two plant homeodomain (PHD) fingers, a RING finger, and a ubiquitin-like domain. It is involved in various biological processes, including cell differentiation, embryonic development, and immune response. DPF2 acts as a transcriptional repressor or activator, depending on the cellular context.

Structure

The DPF2 protein is composed of 372 amino acids and has a molecular weight of approximately 42 kDa. It contains two PHD fingers, which are zinc-binding domains that recognize and bind to specific DNA sequences, and a RING finger, which is a type of zinc finger that is involved in protein-protein interactions.

Clinical Significance

Mutations in the DPF2 gene have been associated with congenital heart defects and neurodevelopmental disorders. In particular, a rare genetic syndrome characterized by intellectual disability, growth retardation, and distinctive facial features has been linked to mutations in this gene.

Research

Research on DPF2 is ongoing, with studies focusing on its role in gene regulation, cell differentiation, and disease. Understanding the function and regulation of DPF2 could lead to new therapeutic strategies for treating diseases associated with mutations in this gene.