FAM65B
Description of FAM65B
Gene Symbol: FAM65B Full Name: Family with Sequence Similarity 65 Member B
FAM65B is a gene that encodes a protein of the same name. This protein is a component of the nuclear pore complex (NPC), a large protein structure that regulates the transport of molecules between the nucleus and cytoplasm of cells. The NPC is essential for the proper functioning of cells, and mutations in FAM65B have been linked to a number of diseases.
Associated Diseases
Mutations in FAM65B have been linked to several diseases, including:
- Dilated cardiomyopathy (DCM): DCM is a condition in which the heart muscle becomes enlarged and weakened, leading to heart failure.
- Arrhythmogenic right ventricular cardiomyopathy (ARVC): ARVC is a condition in which the right ventricle of the heart becomes enlarged and weakened, leading to arrhythmias (irregular heartbeats).
- Left ventricular noncompaction cardiomyopathy (LVNC): LVNC is a condition in which the left ventricle of the heart does not fully compact during development, leading to heart failure.
- Emery-Dreifuss muscular dystrophy (EDMD): EDMD is a rare genetic disorder that affects the muscles, heart, and nervous system.
Did you Know ?
Approximately 1 in 500 people carry a mutation in the FAM65B gene. However, only a small percentage of people with FAM65B mutations develop a heart condition. This suggests that other factors, such as environmental triggers, may play a role in the development of FAM65B-related diseases.
