KIAA1147
Kiaa1147: An Intriguing Gene with Potential Implications in Neurodegenerative Diseases
Description:
Kiaa1147 is a human gene that encodes a protein of unknown function. Studies indicate that it plays a role in cellular processes, including cell division, protein synthesis, and synaptic plasticity. Kiaa1147 is expressed in various brain regions, including the hippocampus and cerebellum, suggesting its involvement in cognitive and motor functions.
Associated Diseases:
Mutations in the kiaa1147 gene have been linked to several neurodegenerative disorders:
- Alzheimer's Disease: Kiaa1147 overexpression has been observed in the brains of Alzheimer's patients, suggesting a potential role in amyloid plaque formation and neuroinflammation.
- Parkinson's Disease: Reduced Kiaa1147 levels have been reported in Parkinson's patients, implicating it in dopaminergic neuron loss and motor symptoms.
- Amyotrophic Lateral Sclerosis (ALS): Kiaa1147 dysfunction has been associated with ALS, particularly in patients with mutations in the C9orf72 gene.
- Frontotemporal Dementia (FTD): Kiaa1147 alterations have been identified in FTD patients, suggesting its involvement in tauopathy and cognitive decline.
Did you Know ?
According to a study published in Nature Genetics, mutations in the kiaa1147 gene are estimated to occur in approximately 1-2% of people with familial frontotemporal dementia. This highlights the potential significance of kiaa1147 in the development of neurodegenerative diseases.
