NP_001173.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
alpha-aminoadipic semialdehyde dehydrogenase isoform 1
NCBI Official Synonym Full Names
aldehyde dehydrogenase 7 family, member A1
NCBI Protein Information
alpha-aminoadipic semialdehyde dehydrogenase; antiquitin-1; P6c dehydrogenase; alpha-AASA dehydrogenase; 26g turgor protein homolog; betaine aldehyde dehydrogenase; delta1-piperideine-6-carboxylate 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 Entry Name
AL7A1_HUMAN
NCBI Summary for ALDH7A1
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. [provided by RefSeq, Jan 2011]
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: Carbohydrate Metabolism - glycolysis and gluconeogenesis; EC 1.2.1.31; Carbohydrate Metabolism - ascorbate and aldarate; EC 1.2.1.8; EC 1.2.1.3; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Amino Acid Metabolism - lysine degradation; Mitochondrial; Other Amino Acids Metabolism - beta-alanine; Oxidoreductase; Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - tryptophan; Lipid Metabolism - fatty acid; Secondary Metabolites Metabolism - limonene and pinene degradation; Lipid Metabolism - glycerolipid; Carbohydrate Metabolism - propanoate; Carbohydrate Metabolism - pyruvate; Amino Acid Metabolism - histidine; Carbohydrate Metabolism - butanoate
Chromosomal Location of Human Ortholog: 5q31
Cellular Component: mitochondrion; mitochondrial matrix; cytoplasm; cytosol; nucleus
Molecular Function: L-aminoadipate-semialdehyde dehydrogenase activity; protein binding; aldehyde dehydrogenase (NAD) activity; betaine-aldehyde dehydrogenase activity
Biological Process: sensory perception of sound; glycine betaine biosynthetic process from choline; lysine catabolic process; aldehyde metabolic process
Disease: Epilepsy, Pyridoxine-dependent
Research Articles on ALDH7A1
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Pathways associated with ALDH7A1 recombinant protein
Diseases associated with ALDH7A1 recombinant protein
Organs/Tissues associated with ALDH7A1 recombinant protein
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