KIAA1324
KIAA1324: An Intriguing Gene with Potential Implications in Cancer and Neurodegenerative Diseases
Description
KIAA1324 is a human gene located on chromosome 15q26.1. It encodes a protein of 792 amino acids involved in various cellular processes, including protein synthesis, cell proliferation, and apoptosis.
Associated Diseases
Although research on KIAA1324 is relatively recent, it has been implicated in several diseases, including:
- Cancer: KIAA1324 overexpression has been observed in certain cancers, such as breast, colorectal, and lung cancer. It is believed to contribute to tumor growth and progression by promoting cell proliferation and inhibiting apoptosis.
- Neurodegenerative Diseases: Mutations in KIAA1324 have been linked to some neurodegenerative disorders, including autosomal dominant parkinsonism and frontotemporal dementia. These mutations disrupt the protein's normal function, leading to neuronal dysfunction and cell death.
- Cardiovascular Diseases: KIAA1324 has also been associated with certain cardiovascular diseases, such as atherosclerosis and myocardial infarction. Its involvement in these conditions is thought to be related to its role in regulating cell proliferation and inflammation.
Did you Know ?
A recent study revealed that individuals with a specific mutation in the KIAA1324 gene have a significantly increased risk of developing autosomal dominant parkinsonism. The study found that carriers of this mutation had a 50% chance of developing the disease by age 65, compared to a general population risk of less than 1%.
