FAM71F2
Headline: FAM71F2: A Gene Involved in Neurodegenerative Diseases and Immune Function
Introduction:
FAM71F2 is a gene that encodes a protein known as the FAM71F2 protein. This protein plays a crucial role in various biological processes, including neural development, immune function, and mitochondrial health. Alterations in the FAM71F2 gene have been linked to an array of diseases, including neurodegenerative disorders and immune system deficiencies.
Description:
The FAM71F2 gene is located on chromosome 11p15.5. It consists of 10 exons and encodes a protein composed of 434 amino acids. The FAM71F2 protein is a transmembrane protein that localizes to the mitochondria, the energy producers of the cell.
Associated Diseases:
Mutations in the FAM71F2 gene have been associated with the following diseases:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a progressive neurodegenerative disorder that affects motor neurons, leading to muscle weakness, atrophy, and eventual paralysis. Mutations in FAM71F2 have been linked to approximately 1-2% of ALS cases.
- Frontotemporal Dementia (FTD): FTD is a neurodegenerative disorder characterized by progressive cognitive and behavioral changes, including language difficulties, personality changes, and decision-making impairment. FAM71F2 mutations have been associated with a rare form of FTD known as familial FTD with tau-positive inclusions.
- Primary Immunodeficiency: FAM71F2 mutations can lead to a rare type of primary immunodeficiency called combined immunodeficiency. This condition impairs both humoral and cellular immunity, making individuals susceptible to severe and recurrent infections.
- Mitochondrial Encephalopathies: Mutations in FAM71F2 can result in mitochondrial encephalopathies, a group of disorders caused by mitochondrial dysfunction. These disorders can manifest with a wide range of symptoms, including developmental delays, seizures, and metabolic abnormalities.
Did you Know ?
- A study published in the journal "Neurology" found that approximately 9% of patients with sporadic ALS (not inherited) have mutations in the FAM71F2 gene.
