Human Methylmalonate-semialdehyde Dehydrogenase, Acylating, Mitochondrial, ALDH6A1 ELISA Kit

SKU: E3571Hu

Size:96 Tests-1 Kit

Background:Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) is an enzyme that in humans is encoded by the ALDH6A1 gene. 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 deficiency is caused by mutations in this gene and the resulting protein.

Research_area:Signal Transduction

Applications:ELISA

Target_protein:ALDH6A1

Reactivity:Human

Assay type:Sandwich

Sensitivity:0.028ng/ml

Detection range:0.05-15ng/ml

Sample type:Serum, plasma or other biological fluids

Full product name:Methylmalonate-semialdehyde dehydrogenase[acylating],mitochondrial

Species:Human

Storage:2-8ºC

Assay time:1h 30m

UniProt accession:Q02252

MASS(Da):57,840

GeneID:4329

Synonyms:Aldehyde dehydrogenase family 6 member A1;ALDH6A1;Malonate-semialdehyde dehydrogenase [acylating;Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial;MMSADHA;MMSDH

Gene names:ALDH6A1

Standard solution:16ng/ml