Notably, despite the inhibition of resorptive function, actin ring formation remained intact—consistent with unaltered αvβ3 integrin expression—whereas extracellular acidification capacity was nearly abolished, a phenotype aligning with observations in patients with ATP6i-dependent autosomal recessive osteopetrosis (Taranta et al., 2003). The gene discussed is TCIRG1; the disease is autosomal recessive osteopetrosis.