atpB

Some ATPB gene mutations may be associated with intellectual disability. Since the F1 subunit of ATP synthase is involved in the process of cellular energy synthesis, mutations in the ATPB gene may result in insufficient cellular energy supply and thus affect brain function.

ATPB gene mutations may lead to impaired mitochondrial function and affect intracellular energy metabolism. Mitochondria are the energy production centers in cells, and impaired mitochondrial function may lead to insufficient cellular energy supply and affect the normal function of multiple tissues and organs.

The frequency of ATPB gene mutations varies among different populations and regions. Because ATPB gene mutations are often associated with rare genetic disorders, their frequency in the overall population is relatively low.

Some ATPB gene mutations may lead to skeletal myopathy. This is due to the high dependence of skeletal muscle on energy supply, and the abnormal cellular energy metabolism caused by ATPB gene mutations may further affect the function and health of skeletal muscle.

ATPB mutations may affect the function of multiple organs and systems. In addition to mitochondria and skeletal muscle, other tissues that depend on ATP supply, such as the nervous system, heart, and liver, among others, may also be affected.

Certain ATPB gene mutations may lead to developmental abnormalities, especially during embryonic development. This can involve multiple organs and systems, leading to problems such as birth defects and developmental delays.