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Protein Page:
ALDH7A1 (human)

Overview
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.
Protein type: Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - histidine; Amino Acid Metabolism - lysine degradation; Amino Acid Metabolism - tryptophan; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - ascorbate and aldarate; Carbohydrate Metabolism - butanoate; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Carbohydrate Metabolism - propanoate; Carbohydrate Metabolism - pyruvate; EC 1.2.1.3; EC 1.2.1.31; EC 1.2.1.8; Lipid Metabolism - fatty acid; Lipid Metabolism - glycerolipid; Mitochondrial; Other Amino Acids Metabolism - beta-alanine; Oxidoreductase; Secondary Metabolites Metabolism - limonene and pinene degradation
Chromosomal Location of Human Ortholog: 5q31
Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion
Molecular Function: aldehyde dehydrogenase (NAD) activity; betaine-aldehyde dehydrogenase activity; L-aminoadipate-semialdehyde dehydrogenase activity; protein binding
Biological Process: aldehyde metabolic process; choline catabolic process; lysine catabolic process; sensory perception of sound
Disease: Epilepsy, Pyridoxine-dependent
Reference #:  P49419 (UniProtKB)
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
Molecular weight: 58,487 Da
Basal Isoelectric point: 8.21  Predict pI for various phosphorylation states
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ALDH7A1

Protein Structure Not Found.
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