FAM66B
FAM66B: A Gene Linked to Cellular Function and Disease
Description
FAM66B, also known as family with sequence similarity 66 member B, is a gene that encodes a protein involved in various cellular processes. Located on chromosome 19 in humans, FAM66B is essential for the proper functioning of cells.
The FAM66B protein is composed of several domains, including an N-terminal transmembrane domain and a C-terminal coiled-coil domain. It is primarily localized to the mitochondria and endoplasmic reticulum (ER), where it plays a role in cellular metabolism, oxidative stress response, and calcium homeostasis.
Associated Diseases
Mutations in the FAM66B gene have been linked to several diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease that affects motor neurons, leading to muscle weakness and eventually paralysis. Mutations in FAM66B have been identified in individuals with a familial form of ALS.
- Alzheimer‘s disease (AD): AD is a neurodegenerative disorder characterized by cognitive decline and memory loss. Studies have shown an association between FAM66B variants and an increased risk of developing AD.
- Parkinson‘s disease (PD): PD is a movement disorder caused by the loss of dopamine-producing neurons in the brain. Some research suggests that FAM66B may be involved in the pathogenesis of PD.
- Cardiovascular disease: FAM66B has been implicated in the development of cardiovascular diseases, such as coronary artery disease and heart failure.
Did you Know ?
According to a study published in Nature Genetics, mutations in FAM66B account for approximately 1% of familial ALS cases. This highlights the significance of FAM66B as a potential therapeutic target for ALS.
