adenosine deaminase

Thân thiện

A scientist studies the adenosine deaminase enzyme in a laboratory.

Definition

1. Noun:
   • An enzyme: A specific protein found in mammals that acts as a biological catalyst.
   • Primary Function: It catalyzes the chemical reaction of deamination, specifically converting the nucleoside adenosine into inosine and ammonia.
   • Medical Significance: A deficiency in this enzyme is directly linked to a specific form of severe combined immunodeficiency disease (SCID), a serious genetic disorder affecting the immune system.
   • Genetic Research Significance: The gene responsible for producing this enzyme was among the first human genes to be successfully isolated and cloned for scientific study.

Usage Examples

• Noun:
  • The doctor explained that the child's immune deficiency was caused by a lack of adenosine deaminase.
  • Researchers are studying the structure of adenosine deaminase to develop new therapies.
  • The function of adenosine deaminase is critical for a healthy immune system.

Advanced Usage

• "ADA deficiency": The medical condition resulting from insufficient levels or non-functional adenosine deaminase enzyme.

  • Early diagnosis of ADA deficiency is crucial for treatment.

• "ADA-SCID": An acronym for the specific type of severe combined immunodeficiency disease caused by adenosine deaminase deficiency.

  • Gene therapy has shown promise in treating ADA-SCID.

Variants and Related Words

• ADA: A common acronym for adenosine deaminase.

  • The ADA gene is located on chromosome 20.

• Deaminase (n): A general term for any enzyme that catalyzes a deamination reaction (removal of an amino group).

  • Adenosine deaminase is one type of deaminase.

• Deamination (n): The chemical process of removing an amino group from a molecule, which is the reaction catalyzed by this enzyme.

Synonyms

• Enzyme: (General term) A protein that acts as a catalyst.
• Catalyst: (General term) A substance that increases the rate of a chemical reaction.

Related Terms and Contexts

• Inosine: The product formed when adenosine deaminase acts on adenosine.
• Purine metabolism: The broader biochemical pathway in which adenosine deaminase functions.
• Gene therapy: A field of medicine where treatment for adenosine deaminase deficiency has been a pioneering example.
  • Adenosine deaminase deficiency was the first disease treated with human gene therapy.

Học thuật

Noun

1. an enzyme found in mammals that can catalyze the deamination of adenosine into inosine and ammonia
   • ADA deficiency can lead to one form of severe combined immunodeficiency disease
   • the gene encoding ADA was one of the earlier human genes to be isolated and cloned for study

Từ đồng nghĩa

• ada