Explore GeneticAdvance
Join UK Genetic Research Now
Empower change through genetic research. Collaborate with us in London to advance understanding and solutions for genetic mutations.
Mutation Awareness
Join London’s Mutation Research Insights
Discover pivotal genetic mutation research insights advancing health and innovation at the forefront of London's scientific community.
Genetic Insight
Empowering Knowledge on Gene Science
Discover groundbreaking insights into genetic science to empower healthier futures for communities worldwide with CAPRIN1foundation.
Key Functions of CAPRIN1
- Regulates RNA transport and local protein synthesis in neurons.
- Involved in synaptic plasticity and memory formation.
- Helps control cell proliferation and stress response.
Associated Disorders
- Neurodevelopmental Delay: CAPRIN1 mutations can cause developmental delays, intellectual disability, and motor impairments.
- Autism Spectrum Disorder (ASD): CAPRIN1 dysfunction has been linked to autism-like traits.
- Epilepsy: Some individuals with CAPRIN1 mutations experience seizures.
- Speech and Language Impairments: Delayed speech development and communication difficulties are common.
Types of Mutations
- Loss-of-Function (LoF) Mutations: These result in reduced or absent CAPRIN1 protein function, often leading to severe neurological symptoms.
- Missense Mutations: Single amino acid changes can affect protein function and may contribute to milder or variable symptoms.
Understand Your Genes Today
Unlock the mysteries of genetics with CAPRIN1foundation. Pioneering research in Greater London to enhance your genetic understanding.
Reach Out for More Information
Contact us to learn about genetic mutation studies in Greater London.