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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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.

References[edit | edit source]

External links[edit | edit source]

ADNP (gene) Resources
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