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MA5-31616 has been tested in indirect ELISA.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: aldehyde dehydrogenase 6 family, member A1; Aldehyde dehydrogenase family 6 member A1; malonate-semialdehyde dehydrogenase; Malonate-semialdehyde dehydrogenase [acylating]; Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial; MGC40271; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase; MMSDH; testicular tissue protein Li 122
基因别名: ALDH6A1; MMSADHA; MMSDH
UniProt ID: (Human) Q02252
Entrez Gene ID: (Human) 4329