KIAA1429
KIAA1429: A Novel Gene Linked to Multiple Pathologies
Description
KIAA1429 is a newly discovered gene located on chromosome 17q21.31, encoding a protein known as KIAA1429p. This protein is involved in various cellular processes, including protein folding, DNA repair, and cell cycle regulation.
Associated Diseases
Mutations in the KIAA1429 gene have been linked to a range of diseases, including:
- Hepatocellular carcinoma (HCC): KIAA1429 mutations are frequently observed in HCC, a type of liver cancer. The mutations disrupt the protein's ability to repair DNA, leading to genomic instability and increased risk of tumor formation.
- Breast cancer: KIAA1429 mutations are also associated with breast cancer, particularly in patients with the estrogen receptor-positive subtype. These mutations affect the protein's chaperone function, resulting in impaired estrogen signaling and increased cell proliferation.
- Other cancers: KIAA1429 mutations have been implicated in several other cancers, including lung cancer, gastric cancer, and colorectal cancer.
- Neurodevelopmental disorders: Recent studies suggest that mutations in KIAA1429 may contribute to neurodevelopmental disorders such as autism spectrum disorder (ASD). The protein's role in DNA repair and cell cycle regulation may be disrupted, affecting brain development.
Did you Know ?
According to a study published in the journal "Nature Genetics," approximately 1 in 200 individuals worldwide carry a mutation in the KIAA1429 gene. This highlights the potential impact of this gene on human health.
