Gene Synopsis:atad-3 encodes the ortholog of the vertebrate mitochondrial protein ATAD3; both vertebrate and elegans...ATAD-3 contain the conserved AAA (ATPases associated with a variety of cellular activities) domain;...atad-3 is required for normal mitochondrial morphology and activity as atad-3 mutants show reduced complex...I and citrate synthase activities; atad-3 is also required for embryonic and larval development; ATAD
Definition:A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33.
Definition:A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.