Entity Details

Primary name ALDH6A1
Entity type gene
Source Source Link

Details

PrimaryID4329
RefseqGeneNG_012257
SymbolALDH6A1
Namealdehyde dehydrogenase 6 family member A1
Chromosome14
Location14q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-31
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMMSA_HUMAN

GO terms

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GOName
GO:0000062 fatty-acyl-CoA binding
GO:0003723 RNA binding
GO:0004491 methylmalonate-semialdehyde dehydrogenase (acylating) activity
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006210 thymine catabolic process
GO:0006573 valine metabolic process
GO:0006574 valine catabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0018478 malonate-semialdehyde dehydrogenase (acetylating) activity
GO:0019859 thymine metabolic process
GO:0050873 brown fat cell differentiation
GO:0102662 malonate-semialdehyde dehydrogenase (acetylating, NAD+) activity

Diseases

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Disease IDSourceNameDescription
614105 OMIMMethylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. The disease is caused by variants affecting the gene represented in this entry.