ADCY9
Adenylate Cyclase 9 (ADCY9)
Description
Adenylate cyclase 9 (ADCY9) is an enzyme that catalyzes the conversion of ATP to cAMP, a second messenger involved in various cellular processes. It belongs to the adenylate cyclase family of enzymes, which are responsible for cAMP production.
ADCY9 is found primarily in the brain, particularly in the hippocampus, cerebellum, and basal ganglia. It is localized to the plasma membrane and is involved in several neuronal functions, including synaptic plasticity, learning, and memory.
Associated Diseases
Defects in ADCY9 have been linked to several neurological disorders:
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Intellectual Disability: Mutations in ADCY9 can lead to intellectual disability, characterized by impaired cognitive abilities, speech delays, and developmental abnormalities.
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Autism Spectrum Disorder (ASD): Studies have identified a link between ADCY9 mutations and ASD, a neurodevelopmental condition characterized by social difficulties, communication challenges, and repetitive behaviors.
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Schizophrenia: Dysregulation of ADCY9 has been implicated in schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
- Approximately 1 in 100,000 individuals worldwide have mutations in ADCY9, making it a relatively rare genetic disorder.
