ATP13A2

ATP13A2 (also known as PARK9) is a protein that in humans is encoded by the ATP13A2 gene. It is associated with a form of Parkinson's disease known as Kufor-Rakeb syndrome.

Function

ATP13A2 is an ATPase associated with various cellular activities (AAA) protein. It is involved in the regulation of lysosome homeostasis, autophagy, and metal ion homeostasis. Mutations in this gene are associated with Kufor-Rakeb syndrome, a form of Parkinson's disease.

Clinical significance

Mutations in ATP13A2 are associated with Kufor-Rakeb syndrome, a form of Parkinson's disease. This condition is characterized by Parkinsonism, supranuclear palsy, pyramidal syndrome, and cognitive decline. ATP13A2 mutations have also been associated with neuronal ceroid lipofuscinosis and hereditary spastic paraplegia.

Genetics

The ATP13A2 gene is located on the long (q) arm of chromosome 1 at position 36.13. The gene spans approximately 73 kilobases and comprises 29 exons. The encoded protein is 1,180 amino acids in length.

See also

• Parkinson's disease
• Kufor-Rakeb syndrome
• Neuronal ceroid lipofuscinosis
• Hereditary spastic paraplegia

References

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External links

• ATP13A2 at NCBI
• ATP13A2 at Genetics Home Reference