AGAP11
Description
Agap11, also known as Arf-GAP with GTPase activity and PH domain 11, is a protein encoded by the AGAP11 gene in humans. It is a member of the AGAP family of proteins, which regulate the activity of small GTPases involved in various cellular processes, including membrane trafficking, cell polarity, and cell migration.
Agap11 is characterized by the presence of an Arf-GAP domain, which catalyzes the hydrolysis of GTP to GDP on Arf GTPases. This activity is essential for regulating the cycling of Arf GTPases between their active and inactive states, allowing them to control membrane trafficking events. Additionally, Agap11 contains a pleckstrin homology (PH) domain, which is involved in membrane localization and interactions with other proteins.
Associated Diseases
Mutations in the AGAP11 gene have been associated with several neurodevelopmental disorders, including:
- Intellectual disability: Agap11 mutations have been linked to a range of intellectual disabilities, ranging from mild to severe.
- Autism spectrum disorder (ASD): Agap11 mutations have been identified in individuals with ASD, often characterized by difficulties with social communication and interaction.
- Schizophrenia: Some studies have suggested an association between AGAP11 mutations and increased risk of schizophrenia, a severe mental illness.
It is important to note that the exact role of Agap11 in these disorders is still being investigated, and not all individuals with mutations in this gene will necessarily develop these conditions.
Did you Know ?
Approximately 1% of individuals with intellectual disability have mutations in the AGAP11 gene, making it one of the most common genetic causes of this condition.
