FAM69B
FAM69B: An Essential Gene with Far-Reaching Implications
Description
FAM69B is a protein-coding gene located on chromosome 19q13.32. It encodes a protein known as family with sequence similarity 69 member B, which is involved in several essential cellular processes, including cell growth, proliferation, differentiation, and migration.
Associated Diseases
Mutations in the FAM69B gene have been linked to a variety of diseases, including:
- Cobalamin C deficiency: A rare inherited disorder characterized by impaired absorption of vitamin B12, leading to neurological and hematological complications.
- Microcephaly (primary autosomal recessive): A condition involving an abnormally small head circumference that can lead to developmental delays.
- Pontocerebellar hypoplasia (PCH): A neurodegenerative disorder characterized by the underdevelopment of the pons and cerebellum, resulting in severe motor and intellectual disabilities.
- Joubert syndrome: A genetic disorder that affects the development of the cerebellum and brainstem, causing developmental delays, hypotonia, and breathing problems.
Did you Know ?
- Mutations in the FAM69B gene are estimated to occur in approximately 1 in 10,000 individuals, making it a rare genetic disorder.
