FAM170B
FAM170B: A Gene with Intriguing Implications in Human Health
Description
FAM170B is a gene that encodes a protein known as family with sequence similarity 170 member B. It belongs to the FAM170 protein family, which plays a role in regulating various cellular processes. FAM170B is specifically involved in centriole biogenesis, a process essential for cell division.
Associated Diseases
Mutations in the FAM170B gene have been linked to several human diseases, including:
- Microcephaly: A condition characterized by a small head size and impaired brain development.
- Primary Ciliary Dyskinesia (PCD): A disorder that affects the function of cilia, leading to respiratory and other health problems.
- Joubert Syndrome: A rare genetic disorder that causes developmental disabilities and neurological problems.
- Orofacial Clefting: A birth defect that affects the development of the face and mouth.
Did you Know ?
Approximately 1 in 100,000 newborns are affected by microcephaly caused by FAM170B mutations.
