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Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Translation01:31

Translation

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 Life
Translation01:31

Translation

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 Life
Cofactors and Coenzymes01:27

Cofactors and Coenzymes

Enzymes require additional components for proper function. There are two such classes of molecules: cofactors and coenzymes. Cofactors are metallic ions and coenzymes are non-protein organic molecules. Both of these types of helper molecule can be tightly bound to the enzyme or bound only when the substrate binds.
Cofactors and Coenzymes01:24

Cofactors and Coenzymes

Enzymes are proteins made of amino acids. The functional group of each constituent amino acid catalyzes a wide variety of chemical reactions via ionic interactions or acid-base reactions. However, amino acids cannot catalyze oxidation-reduction and group transfer reactions and need to be aided by non-protein components called cofactors. Cofactors are also referred to as the chemical teeth of an enzyme.
Cofactors can be metallic ions or organic molecules called coenzymes. These types of helper...
Cofactors and Coenzymes01:27

Cofactors and Coenzymes

Enzymes require additional components for proper function. There are two such classes of molecules: cofactors and coenzymes. Cofactors are metallic ions and coenzymes are non-protein organic molecules. Both of these types of helper molecule can be tightly bound to the enzyme or bound only when the substrate binds.

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Related Experiment Video

Updated: Jul 19, 2026

Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess
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A Turkish case with molybdenum cofactor deficiency.

K Ichida1, H Ibrahim Aydin, M Hosoyamada

  • 1Division of Kidney and Hypertension, Jikei University School of Medicine, Tokyo, Japan. ichida@jikei.ac.jp

Nucleosides, Nucleotides & Nucleic Acids
|October 27, 2006
PubMed
Summary

Molybdenum cofactor deficiency, a rare neurodegenerative disorder, is linked to a specific MOCS1 gene mutation. This CGA insertion causes an arginine alteration, leading to protein dysfunction and disease.

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Area of Science:

  • Genetics
  • Neuroscience
  • Biochemistry

Background:

  • Molybdenum cofactor deficiency (MIM 252150) is a rare, progressive neurodegenerative disorder with approximately 100 reported cases globally.
  • Genetic analysis of molybdenum cofactor synthesis (MOCS) genes (MOCS1, MOCS2, MOCS3) and GEPH is crucial for understanding disease mechanisms.

Observation:

  • A male patient with molybdenum cofactor deficiency was identified.
  • Analysis revealed a homozygous CGA insertion after A666 in the MOCS1 gene, resulting in an arginine insertion at codon 222 of MOCS1A.
  • Family members without symptoms were heterozygous for this mutation, indicating its recessive inheritance pattern.

Findings:

  • The identified mutation, a CGA insertion leading to arginine at MOCS1A codon 222, was located in a highly conserved region.
  • Structural analysis suggests the insertion disrupts the triosephosphate isomerase (TIM) barrel domain of the MOCS1 protein.
  • This arginine insertion is predicted to induce conformational changes, resulting in a loss of protein activity.

Implications:

  • This finding elucidates a specific genetic cause for molybdenum cofactor deficiency.
  • Understanding the structural impact of the mutation provides insights into MOCS1 protein function.
  • Further research can explore targeted therapeutic strategies for this rare neurodegenerative disorder.