Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.
Epilepsy, early-onset, 4, vitamin B6-dependent
EPEO4
An autosomal recessive neurologic disorder ocharacterized 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.
Belongs to the aldehyde dehydrogenase family.
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.
ATQ1, ALDH7A1, Alpha-aminoadipic semialdehyde dehydrogenase, Alpha-AASA dehydrogenase, Aldehyde dehydrogenase family 7 member A1, Antiquitin-1, Betaine aldehyde dehydrogenase, Delta1-piperideine-6-carboxylate dehydrogenase, P6c dehydrogenase
Proteins
58487Da
We found 6 products in 1 category
ab236663
ab154264