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Related Experiment Videos

[Adenine phosphoribosyltransferase (APRT)]

N Kamatani1

  • 1Institute of Rheumatology, Tokyo Women's Medical College.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|December 1, 1996
PubMed
Summary
This summary is machine-generated.

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Adenine phosphoribosyltransferase (APRT) is a key enzyme in purine metabolism. APRT deficiency, caused by somatic mutations, impacts adenine salvage pathways and is observed in some malignant cells.

Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Context:

  • Adenine phosphoribosyltransferase (APRT) salvages adenine from methylthiodenosine (MTA), a polyamine synthesis byproduct.
  • MTA phosphorylase deficiency, due to 9p21 homozygous deletion, affects adenine salvage in ~23% of malignant cells.
  • APRT gene (16q24, 5 exons, 2200 bp) encodes a 180-amino acid protein with a PRPP binding domain.

Purpose:

  • To describe the structure and function of the APRT enzyme.
  • To investigate the role of APRT in purine metabolism and adenine salvage pathways.
  • To highlight the significance of the APRT locus for studying human somatic mutations.

Summary:

  • APRT is a crucial enzyme in purine metabolism, salvaging adenine generated during polyamine synthesis.

Related Experiment Videos

  • Deficiency in APRT or MTA phosphorylase impacts adenine salvage, notably in certain malignant cells lacking MTA phosphorylase due to 9p21 deletions.
  • The APRT gene locus serves as a model for observing somatic mutations, including loss of heterozygosity and point mutations, similar to tumor-suppressor gene mutation patterns.

    • Impact:

    • Understanding APRT function is vital for comprehending purine metabolic disorders.
    • The APRT locus provides insights into mechanisms of somatic mutation and loss of heterozygosity.
    • Research on APRT contributes to the study of genetic instability in both normal and malignant cells.