PRICKLE1

PRICKLE1 is a gene that encodes a protein of the same name in humans. The PRICKLE1 protein is part of the noncanonical Wnt signaling pathway, which plays a crucial role in embryonic development, particularly in the formation and function of the nervous system. Mutations in the PRICKLE1 gene have been associated with various neurological disorders, including epilepsy and autism.

Function

The PRICKLE1 protein is involved in the planar cell polarity (PCP) pathway, a subset of the noncanonical Wnt signaling pathway. The PCP pathway is responsible for coordinating the orientation of cells within a tissue plane. The PRICKLE1 protein interacts with other proteins in the PCP pathway to regulate the activity of this pathway.

Clinical significance

Mutations in the PRICKLE1 gene have been linked to a number of neurological disorders. These include:

• Epilepsy: Some forms of epilepsy have been associated with mutations in the PRICKLE1 gene. These mutations may disrupt the normal function of the PRICKLE1 protein, leading to abnormal neuronal activity and seizures.

• Autism: Research has suggested a link between mutations in the PRICKLE1 gene and autism. These mutations may affect the development and function of the brain, contributing to the symptoms of autism.

• Neural tube defects: The PRICKLE1 protein plays a key role in the development of the nervous system. Mutations in the PRICKLE1 gene can disrupt this process, leading to neural tube defects.

See also

• Wnt signaling pathway
• Planar cell polarity
• Neurological disorders

References

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