NP_001026976
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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
57,669 Da
NCBI Official Full Name
fatty aldehyde dehydrogenase isoform 1
NCBI Official Synonym Full Names
aldehyde dehydrogenase 3 family, member A2
NCBI Protein Information
fatty aldehyde dehydrogenase; aldehyde dehydrogenase 10; microsomal aldehyde dehydrogenase; aldehyde dehydrogenase family 3 member A2
UniProt Protein Name
Fatty aldehyde dehydrogenase
UniProt Synonym Protein Names
Aldehyde dehydrogenase 10; Aldehyde dehydrogenase family 3 member A2; Microsomal aldehyde dehydrogenase
UniProt Synonym Gene Names
UniProt Entry Name
AL3A2_HUMAN
NCBI Summary for ALDH3A2
Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for ALDH3A2
ALDH3A2: Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid. Defects in ALDH3A2 are the cause of Sjoegren-Larsson syndrome (SLS). SLS is an autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis (increased keratinization). Ichthyosis is usually evident at birth, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. Belongs to the aldehyde dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Carbohydrate Metabolism - pyruvate; EC 1.2.1.3; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Membrane protein, integral; Mitochondrial; Other Amino Acids Metabolism - beta-alanine; Amino Acid Metabolism - arginine and proline; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Amino Acid Metabolism - tryptophan; Secondary Metabolites Metabolism - limonene and pinene degradation; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - histidine; Lipid Metabolism - glycerolipid; Lipid Metabolism - fatty acid; Carbohydrate Metabolism - ascorbate and aldarate; Oxidoreductase; Amino Acid Metabolism - lysine degradation
Chromosomal Location of Human Ortholog: 17p11.2
Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle; mitochondrial inner membrane; integral to membrane; peroxisome
Molecular Function: long-chain-alcohol oxidase activity; aldehyde dehydrogenase (NAD) activity; aldehyde dehydrogenase [NAD(P)+] activity; 3-chloroallyl aldehyde dehydrogenase activity; long-chain-aldehyde dehydrogenase activity
Biological Process: phytol metabolic process; epidermis development; central nervous system development; aldehyde metabolic process; sesquiterpenoid metabolic process; peripheral nervous system development
Disease: Sjogren-larsson Syndrome
Research Articles on ALDH3A2
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Pathways associated with anti-ALDH3A2 antibody
Diseases associated with anti-ALDH3A2 antibody
Organs/Tissues associated with anti-ALDH3A2 antibody
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