ATP6V1G1

The protein is a G subunit component of the V1 complex of vacuolar ATPase (V-ATPase), which acidifies intracellular organelles and is essential for protein sorting, endocytosis, synaptic vesicle function, and intracellular iron homeostasis. Mutations cause autosomal recessive cutis laxa with neurodegeneration, typically presenting in early childhood with connective tissue abnormalities, developmental delay, seizures, and progressive neurological deterioration. The gene shows moderate tolerance to loss-of-function variants, consistent with recessive inheritance patterns.