ACP4
ACP4: A Critical Protein Implicated in Neurological Development and Disease
Description
ACP4, or acidic calpain inhibitor protein 4, is a crucial protein involved in regulating calcium-dependent proteolysis, a process essential for proper cellular function. It acts as an inhibitor of calpain, a group of calcium-activated proteases, and plays a key role in various cellular pathways, including cell growth, differentiation, and apoptosis.
Associated Diseases
Dysregulation of ACP4 has been linked to several neurological disorders, including:
- Huntington‘s disease: Mutations in the ACP4 gene have been identified in individuals with Huntington‘s disease, a devastating neurodegenerative disorder characterized by involuntary movements, cognitive decline, and emotional disturbances.
- Alzheimer‘s disease: Alterations in ACP4 expression or activity have been observed in Alzheimer‘s disease, a progressive brain disorder that leads to memory loss, cognitive impairment, and behavioral changes.
- Amyotrophic lateral sclerosis (ALS): Research suggests that reduced levels of ACP4 may contribute to the motor neuron degeneration and muscle weakness associated with ALS.
- Schizophrenia: Studies have indicated that ACP4 may play a role in the neurodevelopmental abnormalities observed in schizophrenia, a severe mental health condition involving hallucinations, delusions, and cognitive impairments.
Did you Know ?
Approximately 1 in 20,000 individuals globally is affected by Huntington‘s disease, a rare but debilitating condition primarily caused by mutations in the ACP4 gene.