CNBP

CNBP (CCHC-type zinc finger nucleic acid binding protein), also known as ZNF9, is a protein that in humans is encoded by the CNBP gene. It is a highly conserved protein that plays a crucial role in cellular growth and differentiation. Mutations in the CNBP gene are associated with myotonic dystrophy type 2 (DM2), a common form of muscular dystrophy.

Structure

The CNBP protein is a small, highly conserved protein that contains seven CCHC-type zinc fingers. These zinc finger domains are responsible for binding to nucleic acids, and are essential for the protein's function. The protein is predominantly localized in the nucleus, but can also be found in the cytoplasm.

Function

CNBP plays a crucial role in cellular growth and differentiation. It is involved in the regulation of gene expression, and can bind to both DNA and RNA. It has been shown to interact with the transcription factors Sp1 and Sp3, and is thought to modulate their activity. In addition, CNBP has been implicated in the regulation of the cell cycle, and may play a role in cellular proliferation.

Clinical significance

Mutations in the CNBP gene are associated with myotonic dystrophy type 2 (DM2), a common form of muscular dystrophy. DM2 is characterized by muscle weakness and myotonia, as well as cataracts, heart conduction defects, and endocrine changes. The disease is caused by an unstable CCTG repeat expansion in the first intron of the CNBP gene. This repeat expansion leads to the production of a toxic RNA that sequesters specific RNA-binding proteins, leading to a disruption of normal cellular processes.

See also

• Zinc finger
• Myotonic dystrophy
• Gene expression
• Transcription factor