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Related Concept Videos

Allosteric Proteins-ATCase01:19

Allosteric Proteins-ATCase

Binding sites linkages can regulate a protein's function.  For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to  N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis pathway,...
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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
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Mutations

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ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
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RNA Editing

RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...

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Related Experiment Video

Updated: May 25, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

C35T mutation could slightly decrease the activity of human α-(1,2)-fucosyltransferase.

S Tao1, Y He, Y Ying

  • 1Blood Center of Zhejiang Province, Wulin Road 345, Hangzhou, Zhejiang Province 310006, People's Republic of China.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine
|January 24, 2012
PubMed
Summary
This summary is machine-generated.

The FUT1 C35T variant is a common polymorphism in the Chinese population. While it doesn't impact mRNA levels, it slightly reduces α-(1,2)-fucosyltransferase enzyme activity in vitro.

Related Experiment Videos

Last Updated: May 25, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • The FUT1 gene encodes α-(1,2)-fucosyltransferase, crucial for ABO blood group antigen synthesis.
  • A C35T mutation in FUT1 was previously linked to the para-Bombay phenotype.
  • Recent findings suggest C35T is a common polymorphism within the Chinese population.

Purpose of the Study:

  • To investigate the functional properties of the C35T mutant FUT1.
  • To clarify the impact of the C35T polymorphism on FUT1 expression and enzyme activity.

Main Methods:

  • Cloning the C35T mutant FUT1 gene into an expression vector.
  • Analyzing mRNA expression using real-time quantitative PCR.
  • Determining mutant enzyme activity in vitro.

Main Results:

  • The C35T polymorphism has allele frequencies of 0.735 (35C) and 0.265 (35T) in the Chinese population.
  • FUT1 mRNA levels in cells transfected with C35T were comparable to wild-type (99.85%).
  • The C35T mutant exhibited reduced enzyme activity (79.45% of wild-type) and a higher K(m) for phenyl-gal.

Conclusions:

  • FUT1 C35T is a prevalent polymorphism in the Chinese population.
  • This polymorphism does not significantly alter FUT1 mRNA transcription.
  • The C35T variant leads to a moderate decrease in human α-(1,2)-fucosyltransferase activity in vitro.