ATP5D

ATP5D is a gene that encodes a subunit of mitochondrial ATP synthase, an enzyme that plays a crucial role in the production of ATP, the main source of cellular energy. This gene is located on chromosome 19 in humans.

Function

ATP5D encodes the delta subunit of the F1 complex of the mitochondrial ATP synthase. Mitochondrial ATP synthase is an enzyme that uses the energy from a proton gradient to generate ATP from ADP and inorganic phosphate. The F1 complex consists of five different subunits (alpha, beta, gamma, delta, and epsilon), and the delta subunit is believed to help in the regulation of ATP synthase function.

Structure

The ATP5D gene is located on the q arm of chromosome 19 at position 13.2 and spans 7,149 base pairs. The ATP5D protein weighs 18.4 kDa and is composed of 167 amino acids. The protein is a component of the F1 complex of the mitochondrial ATP synthase, which is a large enzyme complex with a molecular mass of about 600 kDa.

Clinical significance

Mutations in the ATP5D gene have been associated with mitochondrial diseases, including Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. Symptoms may include poor sucking ability, loss of head control and motor skills, as well as potentially fatal lactic acidosis.

Research

Research on ATP5D has focused on its role in energy production and its potential involvement in disease. For example, studies have suggested that ATP5D may be a potential biomarker for colorectal cancer and could be involved in the progression of Alzheimer's disease.

See also

• ATP synthase
• Mitochondrial diseases
• Leigh syndrome
• Chromosome 19