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ALDH7A1
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. Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE). 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. Belongs to the aldehyde dehydrogenase family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Lipid Metabolism - glycerolipid; Amino Acid Metabolism - histidine; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 1.2.1.3; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Mitochondrial; Carbohydrate Metabolism - pyruvate; Secondary Metabolites Metabolism - limonene and pinene degradation; Amino Acid Metabolism - lysine degradation; Amino Acid Metabolism - tryptophan; Carbohydrate Metabolism - butanoate; Oxidoreductase; Amino Acid Metabolism - arginine and proline; EC 1.2.1.8; Other Amino Acids Metabolism - beta-alanine; Carbohydrate Metabolism - ascorbate and aldarate; Carbohydrate Metabolism - propanoate; Lipid Metabolism - fatty acid; EC 1.2.1.31 |
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Cellular Component: mitochondrion; mitochondrial matrix; cytoplasm; cytosol; nucleus
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Molecular Function: aldehyde dehydrogenase (NAD) activity; L-aminoadipate-semialdehyde dehydrogenase activity; protein binding; betaine-aldehyde dehydrogenase activity
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Biological Process: sensory perception of sound; glycine betaine biosynthetic process from choline; lysine catabolic process; aldehyde metabolic process
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Reference #:
P49419 (UniProtKB)
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| Alt. Names/Synonyms: 26g turgor protein homolog; AL7A1; aldehyde dehydrogenase 7 family, member A1; Aldehyde dehydrogenase family 7 member A1; ALDH7A1; Alpha-AASA dehydrogenase; Alpha-aminoadipic semialdehyde dehydrogenase; antiquitin 1; Antiquitin-1; ATQ1; Betaine aldehyde dehydrogenase; Delta1-piperideine-6-carboxylate dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenease; EPD; FLJ11738; FLJ92814; P6c dehydrogenase; PDE |
| Gene Symbols: ALDH7A1 |
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Molecular weight: 58,487 Da
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Basal Isoelectric point: 8.21
Predict pI for various phosphorylation states
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