FAM92A1
Title: FAM92A1: A Gene with a Role in Multiple Diseases
Description:
FAM92A1 (Family with Sequence Similarity 92 Member A1) is a gene that encodes a protein involved in various cellular processes. Located on chromosome 20q13.13, FAM92A1 plays a crucial role in maintaining cell homeostasis and regulating gene expression.
Associated Diseases:
FAM92A1 mutations have been linked to a range of diseases, including:
- Renal Cell Carcinoma (RCC): FAM92A1 is one of the most frequently mutated genes in RCC, a common type of kidney cancer. Mutations in FAM92A1 can promote the growth and progression of RCC cells.
- Clear Cell Renal Cell Carcinoma (ccRCC): In ccRCC, the most prevalent subtype of RCC, FAM92A1 mutations are associated with tumor aggressiveness and poor prognosis.
- Papillary Renal Cell Carcinoma (pRCC): FAM92A1 mutations are less common in pRCC than in ccRCC but are still associated with adverse clinical outcomes.
- Other Cancers: FAM92A1 mutations have also been implicated in other types of cancers, including breast cancer, lung cancer, and colorectal cancer.
- Epilepsy: Mutations in FAM92A1 have been linked to rare forms of epilepsy, particularly myoclonic-atonic epilepsy (MAE).
Did you Know ?
- In RCC, FAM92A1 mutations occur in approximately 10-15% of cases.
