ADNP (gene)

ADNP (gene)

The ADNP (gene) or Activity Dependent Neuroprotective Protein gene is a protein coding gene in humans. It is located on chromosome 20 and is known to play a crucial role in neurodevelopment and neuroprotection.

Function

The ADNP gene encodes a protein that is essential for brain development. This protein is involved in the regulation of gene expression and is believed to play a role in neuronal differentiation and neuronal survival. It is also associated with the regulation of microtubule dynamics, which is crucial for neuronal function.

Clinical significance

Mutations in the ADNP gene have been associated with a number of neurodevelopmental disorders, including Helsmoortel-Van der Aa syndrome, also known as ADNP syndrome. This is a rare genetic disorder characterized by intellectual disability, autism spectrum disorder, distinctive facial features, and various physical abnormalities.

Research

Research into the ADNP gene and its associated protein continues to be a significant area of focus in neuroscience and genetics. Understanding the function and regulation of this gene could provide insights into the development and treatment of a range of neurodevelopmental disorders.

See also

• Gene expression
• Neurodevelopment
• Helsmoortel-Van der Aa syndrome

External links

• ADNP (gene) at NCBI
• ADNP (gene) at Genetics Home Reference

ADNP (gene) Resources
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