ATP5S
ATP5S: A Gene with Profound Implications for Cell Function and Disease
Description
ATP5S, short for ATPase, H+ Transporting, Lysosomal Accessory Protein 5, is a gene located on chromosome 12q21.31. It encodes a protein known as subunit c of the vacuolar ATPase (V-ATPase) complex.
V-ATPase is a multi-subunit enzyme located in the membranes of lysosomes and endosomes in eukaryotic cells. It plays a crucial role in maintaining the acidic pH of these organelles, which is essential for their function in protein degradation, ion transport, and nutrient recycling.
Associated Diseases
Mutations in the ATP5S gene have been linked to several inherited diseases, including:
- Cutis laxa type II (CL2): A rare connective tissue disorder characterized by loose, sagging skin, joint hyperlaxity, and other musculoskeletal abnormalities.
- Mitochondrial DNA depletion syndrome 11 (MDS11): A severe neurodegenerative disorder characterized by progressive muscle weakness, intellectual disability, seizures, and other neurological symptoms.
- Distal renal tubular acidosis (dRTA): A kidney disorder characterized by the inability to reclaim bicarbonate from the urine, leading to excessive loss of bicarbonate and a decrease in blood pH.
Did you Know ?
It is estimated that approximately 1 in every 100,000 individuals worldwide is affected by CL2, the most common disease associated with ATP5S mutations.
