HIVEP2

HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2) is a protein that in humans is encoded by the HIVEP2 gene. This protein is a member of the ZAS family, which includes proteins that carry out essential roles in gene expression and development.

Function

The HIVEP2 protein is a transcription factor, which means it helps control the process by which information from a gene is used to create a functional product, such as a protein. The HIVEP2 protein specifically binds to a DNA sequence known as the kappa-B motif, which is found in the regulatory regions of many genes. By binding to this sequence, the HIVEP2 protein can help regulate the activity of these genes.

Clinical significance

Mutations in the HIVEP2 gene have been associated with a rare neurodevelopmental disorder characterized by intellectual disability, speech delay, and autistic features. This condition is sometimes referred to as HIVEP2-related syndrome.

Research

Research into the HIVEP2 gene and its associated protein is ongoing, with scientists seeking to better understand its role in gene regulation and its potential involvement in disease.

See also

• ZAS
• Transcription factor
• Neurodevelopmental disorder