NP_001120810.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
55,645 Da
NCBI Official Full Name
alpha-aminoadipic semialdehyde dehydrogenase isoform b
NCBI Official Synonym Full Names
aldehyde dehydrogenase family 7, member A1
NCBI Protein Information
alpha-aminoadipic semialdehyde dehydrogenase
UniProt Protein Name
Alpha-aminoadipic semialdehyde dehydrogenase
UniProt Synonym Protein Names
Aldehyde dehydrogenase family 7 member A1 (EC:1.2.1.3); Antiquitin-1; Betaine aldehyde dehydrogenase (EC:1.2.1.8); Delta1-piperideine-6-carboxylate dehydrogenase; P6c dehydrogenase
UniProt Synonym Gene Names
UniProt Comments for ALDH7A1
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.
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: 18 D3|18 30.55 cM
Cellular Component: cytoplasm; cytosol; mitochondrion; nucleus
Molecular Function: aldehyde dehydrogenase (NAD) activity; betaine-aldehyde dehydrogenase activity; L-aminoadipate-semialdehyde dehydrogenase activity; oxidoreductase activity
Biological Process: metabolic process
Research Articles on ALDH7A1
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Products associated with ALDH7A1 elisa kit
Pathways associated with ALDH7A1 elisa kit
Diseases associated with ALDH7A1 elisa kit
Organs/Tissues associated with ALDH7A1 elisa kit
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