Required for meiotic nuclear division 1 homolog (RMND1)

Required for meiotic nuclear division 1 homolog (RMND1) is a nuclear-encoded mitochondrial inner membrane protein, important for mitochondrial translation by supporting assembly or stability of the mitochondrial ribosome and facilitating translation of mtDNA-encoded proteins essential for oxidative phosphorylation. Pathogenic variants in RMND1 cause combined oxidative phosphorylation deficiency 11 (COXPD11), a severe, recessive, multisystem disorder often characterized by neonatal developmental delay, sensorineural hearing loss, renal dysfunction, cardiac involvement (especially hypertrophic cardiomyopathy), lactic acidosis, and higher mortality in early years. RMND1 mutations can also result in a Perrault-like syndrome with hearing loss, ovarian dysfunction, and chronic kidney disease, suggesting critical roles outside classic mitochondrial disease syndromes. Disease manifestations and severity depend on specific mutations, and prognosis correlates with organ involvement patterns

Other names

Required for meiotic nuclear division protein 1 homologC6orf96bA351K16.3FLJ20627RMD1COXPD11bA351K16