FAM71D
Family With Sequence Similarity 71 Member D (FAM71D)
Description
FAM71D is a protein encoded by the FAM71D gene in humans. It is a 225-amino acid protein that plays a crucial role in cellular processes such as cell cycle regulation, DNA repair, and apoptosis. FAM71D is highly conserved across species, indicating its essential function.
Associated Diseases
Mutations in the FAM71D gene have been linked to several human diseases, including:
- Cancer: Aberrant FAM71D expression has been observed in various types of cancer, including breast, lung, and colon cancer.
- Neurodegenerative disorders: Mutations in FAM71D have been implicated in the development of Alzheimer‘s disease and other neurodegenerative conditions.
- Autoimmune diseases: Dysregulated FAM71D expression has been associated with autoimmune diseases such as systemic lupus erythematosus (SLE).
- Infertility: FAM71D is essential for proper sperm development and function. Mutations in FAM71D can lead to male infertility.
Did you Know ?
Approximately 10% of all breast cancer cases are associated with alterations in the FAM71D gene.
