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Related Concept Videos

ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

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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...
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ATP Synthase: Structure01:18

ATP Synthase: Structure

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ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
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Allosteric Proteins-ATCase01:19

Allosteric Proteins-ATCase

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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...
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ATP Driven Pumps III: V-type Pumps01:30

ATP Driven Pumps III: V-type Pumps

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V-type pumps are ATP-driven pumps found in the vacuolar membranes of plants, yeast, endosomal and lysosomal membranes of animal cells, plasma membranes of a few specialized eukaryotic cells, and some prokaryotes. They are also known as the V1Vo-ATPase, that couple ATP hydrolysis to transport protons against a concentration gradient.
The peripheral or cytosolic V1 domain with eight subunits is involved in ATP hydrolysis. The integral or transmembrane V0 domain containing at least five subunits...
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Translation01:31

Translation

17.5K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Pathogenic Variants in ATP1A3: Why Is There So Much Confusion?

Kathleen J Sweadner1, Elena Arystarkhova1, Ihtsham U Haq2

  • 1Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston.

Neurology. Genetics
|November 14, 2025
PubMed
Summary
This summary is machine-generated.

Accurate ATP1A3 variant identification is crucial for diagnosing genetic disorders. Using the MANE Select transcript standardizes variant numbering, preventing misclassification and ensuring confident diagnoses for patients.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Pathogenic variants in ATP1A3 cause diverse clinical presentations.
  • Current sequencing services utilize multiple mRNA transcripts for variant identification, leading to inconsistencies.
  • This ambiguity can result in misclassification of known pathogenic ATP1A3 variants as Variants of Uncertain Significance (VUS).

Purpose of the Study:

  • To highlight the discrepancies in variant numbering caused by different ATP1A3 mRNA transcripts.
  • To advocate for the adoption of a single, evidence-based transcript for accurate variant reporting.
  • To improve diagnostic confidence in ATP1A3-related genetic disorders.

Main Methods:

  • Comparative analysis of three different ATP1A3 mRNA transcripts.
  • Evaluation of transcript evidence supporting variant identification.
  • Illustration of variant misidentification due to transcript differences.

Main Results:

  • Significant differences exist in variant numbering across the three commonly used ATP1A3 mRNA transcripts.
  • The MANE Select transcript (1,013 amino acids) is the most robust and evidence-supported.
  • Misidentification of ATP1A3 variants can lead to diagnostic uncertainty and delays.

Conclusions:

  • Standardizing on the MANE Select transcript for ATP1A3 variant analysis is essential.
  • Adoption of this standard will improve the accuracy and reliability of genetic reports.
  • This standardization will facilitate confident diagnoses for ATP1A3-related conditions.