PAPD4
Unlocking the Secrets of PAPD4: A Gene with Far-reaching Health Implications
Description
The PAPD4 gene, located on chromosome 11p15.5, encodes a protein known as PAPD4 (papillary adenoma associated antigen-like 4). This protein plays a crucial role in regulating cell growth and division. It is highly expressed in the placenta, ovaries, and small intestine, suggesting its involvement in embryonic development and reproduction.
Associated Diseases
Mutations in the PAPD4 gene have been linked to several health conditions, including:
- Ovarian cancer: Mutations in PAPD4 increase the risk of developing ovarian cancer, especially in women who carry certain genetic variants.
- Small intestinal adenocarcinoma: Loss of PAPD4 function has been identified in approximately 20% of small intestinal adenocarcinomas.
- Other cancers: PAPD4 mutations have also been associated with an increased risk of melanoma, lung cancer, and breast cancer.
Did you Know ?
A study published in the journal Nature Genetics found that women with the PAPD4 variant rs7974221 had a 40% increased risk of developing ovarian cancer. This highlights the significant impact that PAPD4 alterations can have on cancer susceptibility.
