Ankyrin-3

Ankyrin-3 (also known as ANK3) is a protein that in humans is encoded by the ANK3 gene. It is a member of the ankyrin family of proteins, which are involved in the maintenance of the cytoskeleton and cell membrane integrity.

Structure

The ANK3 gene is located on the long (q) arm of chromosome 10 at position 21. It spans approximately 563,000 base pairs and consists of 62 exons. The ANK3 protein is a member of the ankyrin family, which are characterized by a conserved protein domain known as the ankyrin repeat. This domain consists of 33 amino acids and is involved in protein-protein interactions.

Function

Ankyrin-3 is a membrane-associated protein that plays a crucial role in the maintenance and function of the neuronal axon. It is involved in the anchoring of membrane proteins to the cytoskeleton, a function that is essential for the proper functioning of neurons. Ankyrin-3 is also involved in the regulation of ion channels and cell adhesion molecules, which are critical for neuronal signaling and cell-cell communication.

Clinical significance

Mutations in the ANK3 gene have been associated with a number of psychiatric disorders, including bipolar disorder and schizophrenia. Studies have also suggested a link between ANK3 mutations and autism spectrum disorder (ASD). However, the exact role of ankyrin-3 in these disorders is not fully understood and is the subject of ongoing research.

See also

• Ankyrin
• Bipolar disorder
• Schizophrenia
• Autism spectrum disorder

References

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