NP_005580.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,228 Da
NCBI Official Full Name
methylmalonate-semialdehyde dehydrogenase
NCBI Official Synonym Full Names
aldehyde dehydrogenase 6 family member A1
NCBI Protein Information
methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
UniProt Protein Name
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
UniProt Synonym Protein Names
Aldehyde dehydrogenase family 6 member A1
UniProt Synonym Gene Names
MMSDH; MMSDH; Malonate-semialdehyde dehydrogenase [acylating] [Similar Products]
UniProt Entry Name
MMSA_HUMAN
NCBI Summary for ALDH6A1
This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
UniProt Comments for ALDH6A1
ALDH6A1: Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. Defects in ALDH6A1 are the cause of methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD). This is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Belongs to the aldehyde dehydrogenase family.
Protein type: EC 1.2.1.27; Oxidoreductase; Mitochondrial; Carbohydrate Metabolism - inositol phosphate; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 1.2.1.18; Carbohydrate Metabolism - propanoate
Chromosomal Location of Human Ortholog: 14q24.3
Cellular Component: mitochondrial matrix; mitochondrion; nucleoplasm
Molecular Function: acyl-CoA binding; aldehyde dehydrogenase (NAD) activity; malonate-semialdehyde dehydrogenase (acetylating) activity; methylmalonate-semialdehyde dehydrogenase (acylating) activity; thiolester hydrolase activity
Biological Process: beta-alanine catabolic process; branched chain family amino acid catabolic process; brown fat cell differentiation; thymine catabolic process; thymine metabolic process; valine catabolic process; valine metabolic process
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Research Articles on ALDH6A1
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Pathways associated with anti-ALDH6A1 antibody
Diseases associated with anti-ALDH6A1 antibody
Organs/Tissues associated with anti-ALDH6A1 antibody
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