OPHN1

OPHN1 is a gene that provides instructions for making a protein called oligophrenin-1. This protein is found in the brain, where it plays a crucial role in the development and function of nerve cells (neurons). The OPHN1 protein is involved in the maturation and shaping of dendritic spines, which are small outgrowths from neurons that are necessary for the transmission of nerve impulses.

Function

The protein produced by the OPHN1 gene, oligophrenin-1, is a GTPase-activating protein (GAP) for the Rho family of GTPases. These proteins are involved in signaling pathways that control various cellular processes, including cell division, cell migration, and the organization of the actin cytoskeleton. Oligophrenin-1 is thought to play a role in the formation and maintenance of dendritic spines, which are small protrusions on the surface of neurons where synapses are located.

Clinical significance

Mutations in the OPHN1 gene are associated with X-linked intellectual disability (XLID). This condition is characterized by significantly below-average scores on measures of intelligence and social and practical skills. Males with OPHN1 gene mutations often have delayed development of speech and language skills, behavioral problems, and distinctive facial features.

See also

• X-linked intellectual disability
• Rho family of GTPases
• GTPase-activating protein

References

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