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ACAT1 (zeige ACAT1 Proteine), ACACA (zeige ACACA Proteine), ALDH6A1 and MTHFD1 (zeige MTHFD1 Proteine) represent novel biomarkers in adipose tissue associated with type 2 diabetes in obese individuals.
Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria, which may present with only slightly increased urinary levels of 3-hydroxyisobutyric acid, if a patient is metabolically stable [case reports]
This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, 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.
, methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
, mitochondrial acylating methylmalonate-semialdehyde dehydrogenase
, aldehyde dehydrogenase family 6 member A1
, aldehyde dehydrogenase family 6, subfamily A1
, methylmalonate semialdehyde dehydrogenase
, aldehyde dehydrogenase 6A1
, aldehyde dehydrogenase 6 family, member A1
, methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial-like
, Malonate-semialdehyde dehydrogenase