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The ALDH2 gene is about 44 kbp in length and contains at least 13 exons which encode 517 amino acid residues. Except for the signal NH2-terminal peptide, which is absent in the mature enzyme, the amino acid sequence deduced from the exons coincided with the reported primary structure of human liver ALDH2.
ALDH2, which has a lower K M for acetaldehydes than ALDH1 and acts predominantly in the mitochondrial matrix, is the main enzyme in acetaldehyde metabolism and has three genotypes. A single point mutation (G → A) at exon 12 of the ALDH2 gene causes a replacement of glutamate with lysine at residue 487, resulting in the ALDH2K enzyme. [8]
People have various ALDH2 alleles. 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 ...
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).
Additionally exons can be classified into nine different groups based on the phase of the flanking introns (symmetrical: 0-0, 1-1, 2-2 and asymmetrical: 0–1, 0–2, 1–0, 1–2, etc.) Symmetric exons are the only ones that can be inserted into introns, undergo duplication, or be deleted without changing the reading frame. [2]
In monometallic complexes, aldehydes and ketones can bind to metals in either of two modes, η 1-O-bonded and η 2-C,O-bonded. These bonding modes are sometimes referred to sigma- and pi-bonded. These forms may sometimes interconvert. The sigma bonding mode is more common for higher valence, Lewis-acidic metal centers (e.g., Zn 2+). [1]
216188 Ensembl ENSG00000136010 ENSMUSG00000020256 UniProt Q3SY69 Q8K009 RefSeq (mRNA) NM_001034173 NM_153543 RefSeq (protein) NP_001029345 NP_705771 Location (UCSC) Chr 12: 105.02 – 105.11 Mb Chr 10: 83.32 – 83.37 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Aldehyde dehydrogenase 1 family, member L2 also known as ALDH1L2 is an enzyme that in humans is encoded by the ALDH1L2 ...
ALDH1A1 is the only ALDH1 isozyme known to oxidize 9-cis retinaldehyde into 9-cis retinoic acid [7] and thus serve as the only known activator of the rexinoid nuclear receptor pathway. [8] ALDH1A1 has also been described with activity against other substrates in living systems, including all-trans retinaldehyde [ 9 ] as well as oxazaphosphorine ...