FAM162A
FAM162A: A Key Player in Cellular Processes and Disease
Description
FAM162A (Family With Sequence Similarity 162 Member A) is a gene that encodes a protein of the same name. This protein is located on the X chromosome and plays a crucial role in various cellular processes, including cell division, DNA repair, and cellular stress response. FAM162A is highly conserved across species, indicating its essential role in maintaining cellular homeostasis.
Associated Diseases
Mutations in the FAM162A gene have been linked to several diseases, including:
- Fanconi Anemia: This is a rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and increased susceptibility to cancer. Mutations in FAM162A are found in a subset of Fanconi Anemia patients, known as FA-O.
- Myelodysplastic Syndromes (MDS): These are a group of blood disorders caused by abnormal cell growth in the bone marrow. Mutations in FAM162A have been associated with certain subtypes of MDS.
- Acute Myeloid Leukemia (AML): This is a type of cancer that affects the blood and bone marrow. FAM162A mutations have been found in a small percentage of AML cases.
- Ovarian Cancer: FAM162A mutations have been identified in some patients with ovarian cancer, suggesting a potential role in tumorigenesis.
Did you Know ?
Approximately 1 in 150,000 people worldwide are affected by Fanconi Anemia, a disease linked to mutations in FAM162A.
