功能: catalytic activity:L-2-aminoadipate 6-semialdehyde + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.,disease:Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE) [MIM:266100]. PDE is characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.,similarity:Belongs to the aldehyde dehydrogenase family.,subunit:Homotetramer.,tissue specificity:Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.,
功能: catalytic activity:L-2-aminoadipate 6-semialdehyde + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.,disease:Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE) [MIM:266100]. PDE is characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.,similarity:Belongs to the aldehyde dehydrogenase family.,subunit:Homotetramer.,tissue specificity:Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.,