FAM227B
FAM227B: A Gene with Diverse Roles and Implications
Description
FAM227B (Family with Sequence Similarity 227 Member B) is a protein-coding gene located on chromosome 19q13.11. It encodes a protein known as FAM227B, which is primarily expressed in the liver, pancreas, and blood cells. FAM227B is involved in various cellular processes, including mitochondrial function, apoptosis, and cell cycle regulation.
Associated Diseases
Mutations in the FAM227B gene have been linked to several human diseases:
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): MELAS is a severe mitochondrial disorder characterized by recurrent strokes, seizures, and muscle weakness. Mutations in FAM227B are responsible for approximately 10% of MELAS cases.
- Leigh syndrome: Leigh syndrome is a fatal neurodegenerative disorder that affects infants and young children. Mutations in FAM227B are a rare cause of Leigh syndrome.
- Fatal infantile mitochondrial respiratory chain complex I deficiency: This disorder is characterized by severe respiratory problems and metabolic acidosis in newborns. Mutations in FAM227B can lead to complex I deficiency, resulting in impaired cellular respiration.
- Myoclonic epilepsy with ragged-red fibers (MERRF): MERRF is a rare mitochondrial disorder characterized by muscle weakness, myoclonic seizures (brief, jerking movements), and the presence of ragged-red fibers in muscle biopsies. Mutations in FAM227B have been identified in some patients with MERRF.
Did you Know ?
Approximately 1 in 20,000 people worldwide are affected by MELAS, making it the most common form of mitochondrial encephalopathy. The majority of MELAS cases are caused by mutations in the MT-TL1 gene, which encodes a mitochondrial transfer RNA molecule. However, mutations in FAM227B are the second most common cause of MELAS.
