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The reaction is the result of an accumulation of acetaldehyde, a metabolic byproduct of the catabolic metabolism of alcohol, and is caused by an aldehyde dehydrogenase 2 deficiency. [ 4 ] This syndrome has been associated with lower than average rates of alcoholism, possibly due to its association with adverse effects after drinking alcohol. [ 5 ]
ALDH2 pictured on the left, is an enzyme which breaks down acetaldehyde. [20] [21] Regions highlighted in yellow are structural and allow ALDH2 to fold properly. [20] [21] The region highlighted in red can vary between individuals (right). [22] Individuals who have a G in their DNA will have normal folding and function of ALDH2. [20]
217 11669 Ensembl ENSG00000111275 ENSMUSG00000029455 UniProt P05091 P47738 RefSeq (mRNA) NM_001204889 NM_000690 NM_009656 NM_001308450 RefSeq (protein) NP_000681 NP_001191818 NP_001295379 NP_033786 Location (UCSC) Chr 12: 111.77 – 111.82 Mb Chr 5: 121.7 – 121.73 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Aldehyde dehydrogenase, mitochondrial is an enzyme that in humans is ...
Aldehyde dehydrogenase is a polymorphic enzyme [3] responsible for the oxidation of aldehydes to carboxylic acids. [3] There are three different classes of these enzymes in mammals: class 1 (low K m, cytosolic), class 2 (low K m, mitochondrial), and class 3 (high K m, such as those expressed in tumors, stomach, and cornea).
ALDH2*1 is a common allele , but about 40% of people of East Asian ethnicity have one or two copies of the dominant ALDH2*2 instead, which causes ALDH2 deficiency. If deficient people drink ethanol, they suffer from alcohol flush reaction due to acetaldehyde accumulation. [3] Four Alda-1 molecules bind to each monomer of ALDH2 tetramer.
The disease is passed through autosomal recessive genetics. There have been many individual and familial case studies of this deficiency and the mutations that cause it. Some patients with this disease may be asymptomatic, whereas others show global developmental delay, nonspecific dysmorphic features, and delayed myelination on brain imaging.
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