ATP5MK
Description
ATP5MK, also known as the mitochondrial ATP synthase subunit M, plays a crucial role in cellular energy production. It is an integral component of the ATP synthase complex, a molecular machine that synthesizes adenosine triphosphate (ATP), the primary energy currency of cells. This gene encodes a protein that interacts with other subunits of the ATP synthase complex, contributing to its structural integrity and functionality. The efficient operation of ATP synthase is vital for maintaining cellular respiration and fulfilling the energy requirements of various cellular processes. Mutations in ATP5MK can disrupt the assembly or function of the ATP synthase complex, leading to energy deficiency and potentially serious health issues.
Associated Diseases
- Leigh syndrome
- Mitochondrial encephalomyopathy
- Neuropathy, ataxia, and retinitis pigmentosa (NARP)
- Hypertrophic cardiomyopathy
- Diabetes
Did you know?
ATP5MK is a highly conserved gene, meaning its sequence is very similar across different species. This highlights its fundamental importance in cellular energy production.
