Recombinant Human Alpha-aminoadipic semialdehyde dehydrogenase (ALDH7A1)

Uniprot Id

P49419

Target Species

Human

Target Name

ALDH7A1

Target Full Name

Alpha-aminoadipic semialdehyde dehydrogenase

Target Function

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.

Target Involvement

Pyridoxine-dependent epilepsy (PDE)

Target Subcellular Location

Cytoplasm, cytosol. Nucleus.; [Isoform 1]: Mitochondrion.

Target Protein Families

Aldehyde dehydrogenase family

Target 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.

Target Synonyms

26g turgor protein homolog; AL7A1_HUMAN; Aldehyde dehydrogenase 7 A1; Aldehyde dehydrogenase 7 family, member A1; Aldehyde dehydrogenase family 7 member A1; ALDH7A1; Alpha AASA dehydrogenase; Alpha aminoadipic semialdehyde dehydrogenase; Alpha-AASA dehydrogenase; Alpha-aminoadipic semialdehyde dehydrogenase; Antiquitin 1; Antiquitin; Antiquitin-1; ATQ1; Betaine aldehyde dehydrogenase; Delta1 piperideine 6 carboxylate dehydrogenease; Delta1-piperideine-6-carboxylate dehydrogenase; EPD; P6c dehydrogenase; PDE

Target Background

The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified.