FRMPD4

FRMPD4 (FERM and PDZ domain containing 4) is a protein that in humans is encoded by the FRMPD4 gene. This protein is involved in the regulation of synaptic plasticity and learning and memory processes.

Function

FRMPD4 is a member of the FERM family of proteins, which are involved in a variety of cellular processes including growth, differentiation, and adhesion. The protein contains a FERM domain and a PDZ domain, which are both involved in binding to other proteins. The PDZ domain in particular is known to interact with the glutamate receptor GluR1, suggesting a role in the regulation of synaptic plasticity.

In the brain, FRMPD4 is primarily expressed in the hippocampus, a region involved in learning and memory. Studies have shown that overexpression of FRMPD4 can enhance memory formation, while knockdown of the gene can impair memory.

Clinical significance

Mutations in the FRMPD4 gene have been associated with intellectual disability and autism spectrum disorder. These mutations are thought to disrupt the normal function of the protein, leading to abnormalities in synaptic plasticity and learning and memory processes.

See also

• FERM domain
• PDZ domain
• Glutamate receptor
• Hippocampus
• Intellectual disability
• Autism spectrum disorder

References

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