FAM212A
FAM212A: A Rare Gene with Multifaceted Health Implications
Description
FAM212A (family with sequence similarity 212, member A) is a gene located on chromosome 11q13.2, encoding a protein with various functions in cellular development and homeostasis. It is highly conserved across species, suggesting its essential role in biological processes.
Associated Diseases
Mutations in FAM212A have been linked to several rare diseases, including:
- Fanconi Anemia-like Syndrome (FALS): A bone marrow failure disorder characterized by anemia, bone marrow aplasia, and a predisposition to cancer.
- Microcephalic Primordial Dwarfism (MPD): A genetic condition characterized by severe growth restriction, intellectual disability, and facial abnormalities.
- Congenital Deafness: Mutations in FAM212A are associated with sensorineural deafness in some individuals.
Did you Know ?
Mutations in FAM212A account for approximately 7% of FALS cases and 10% of MPD cases worldwide.
