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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]
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).
ALDH1A2 is abnormally amplified in more than half of instances of T-cell acute lymphoblastic leukemia (T-ALL). [12] T-ALL is a leukemia that arises from immature T-cell precursors and is an aggressive form of cancer that primarily affects children but also occurs in adults.
Exon shuffling was first introduced in 1978 when Walter Gilbert discovered that the existence of introns could play a major role in the evolution of proteins. [3] It was noted that recombination within introns could help assort exons independently and that repetitive segments in the middle of introns could create hotspots for recombination to shuffle the exonic sequences.
ALDH3A2 catalyzes the oxidation of long-chain aliphatic aldehydes into fatty acids. It is known to act on a variety of both saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length, as well as dihydrophytal, a 20-carbon branched chain aldehyde. [6]
Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. [5] [6] This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities.
212647 Ensembl ENSG00000159423 ENSMUSG00000028737 UniProt P30038 Q8CHT0 RefSeq (mRNA) NM_001161504 NM_003748 NM_170726 NM_001319218 NM_175438 RefSeq (protein) NP_001154976 NP_001306147 NP_003739 NP_733844 NP_780647 Location (UCSC) Chr 1: 18.87 – 18.9 Mb Chr 4: 139.35 – 139.38 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Delta-1-pyrroline-5-carboxylate dehydrogenase ...