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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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Translation01:31

Translation

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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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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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Genetic Lingo01:11

Genetic Lingo

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Overview
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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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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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Related Experiment Video

Updated: Oct 3, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Two novel heterozygous variants in ATP1A3 cause movement disorders.

Shogo Furukawa1, Sachiko Miyamoto1, Shinobu Fukumura2

  • 1Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Human Genome Variation
|February 19, 2022
PubMed
Summary

Two novel ATP1A3 gene variants were found in patients with movement disorders. These findings advance understanding of the genetic causes of ATP1A3-related neuropsychiatric conditions.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • ATP1A3 gene variants are linked to neuropsychiatric disorders, particularly movement disorders.
  • Understanding the specific genetic mutations is crucial for diagnosing and treating these conditions.

Purpose of the Study:

  • To identify novel genetic variants in ATP1A3 associated with movement disorders.
  • To characterize the molecular consequences of identified ATP1A3 variants.

Main Methods:

  • Whole exome sequencing was performed on two patients presenting with movement disorders.
  • mRNA analysis was utilized to investigate the impact of a specific indel variant.

Main Results:

  • Two novel heterozygous ATP1A3 variants were identified: a missense variant (c.2408G>A) and an indel variant (c.2672_2688+10delinsCAG).
  • The indel variant, located at the exon-intron boundary of exon 19, resulted in an in-frame indel alteration affecting amino acid residues Ser891 to Trp896.

Conclusions:

  • The identified ATP1A3 variants represent potential new genetic causes for movement disorders.
  • Further research is warranted to elucidate the full spectrum of ATP1A3-related neurological phenotypes and their mechanisms.