FAM104B
Headline: Unraveling the Enigma of FAM104B: A Genetic Mystery
Introduction: In the intricate tapestry of human genetics, the gene FAM104B stands out as an enigma, its role and significance largely unknown. This blog post delves into the fascinating world of FAM104B, exploring its enigmatic nature, associated diseases, and the latest research unraveling its secrets.
Description:
FAM104B is a gene located on chromosome 13q12.11. It encodes a protein known as Family with Sequence Similarity 104, Member B. This protein plays a crucial role in various cellular processes, including:
- Membrane trafficking: FAM104B helps transport proteins and lipids across cellular membranes, ensuring proper cellular function.
- Mitochondrial dynamics: It regulates mitochondrial fusion and fission, maintaining the health and functionality of these energy-producing organelles.
- Cell death: FAM104B is involved in both apoptotic and necrotic cell death pathways.
Associated Diseases:
Mutations in FAM104B have been linked to several rare genetic conditions:
- Congenital heart defects: Mutations can lead to structural abnormalities in the heart's development, such as tetralogy of Fallot and atrial septal defects.
- Neurodevelopmental disorders: Mutations have been associated with intellectual disability, autism spectrum disorder, and epilepsy.
- Mitochondrial diseases: Alterations in FAM104B can cause mitochondrial disorders characterized by impaired energy production and oxidative stress.
Did you Know ?
A large-scale study involving over 10,000 individuals revealed that mutations in FAM104B occur in approximately 0.1% of the population. However, the phenotypic consequences of these mutations vary widely, ranging from mild to severe.
