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POPDC proteins and cardiac function.

Thomas Brand1

  • 1National Heart and Lung Institute, Imperial College London, 4th Floor ICTEM Building, Du Cane Road, London W12 0NN, U.K.

Biochemical Society Transactions
|September 26, 2019
PubMed
Summary
This summary is machine-generated.

The Popeye domain-containing (POPDC) gene family encodes proteins crucial for cyclic AMP signaling in striated muscles. POPDC genes are implicated in muscle diseases like cardiac arrhythmia and muscular dystrophy.

Keywords:
Popeye domain-containingcardiac arrhythmiacyclic nucleotideintracellular signalingmuscular dystrophyprotein–protein interaction

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Area of Science:

  • Molecular Biology
  • Genetics
  • Cardiology

Background:

  • The Popeye domain-containing (POPDC) gene family represents a novel class of cyclic AMP (cAMP) effector proteins.
  • These proteins are predominantly expressed in striated muscle tissue.

Purpose of the Study:

  • To review the structure, function, and signaling role of POPDC proteins.
  • To highlight the emerging role of POPDC genes in striated muscle diseases.
  • To compare disease phenotypes in humans with those in animal models.

Main Methods:

  • Literature review focusing on POPDC gene family.
  • Analysis of protein structure and function.
  • Comparison of human disease phenotypes with zebrafish and mouse models.

Main Results:

  • POPDC proteins are key regulators of cAMP signaling in striated muscles.
  • Mutations in POPDC genes are linked to cardiac arrhythmia and muscular dystrophy.
  • Animal models (zebrafish, mouse) with POPDC mutations exhibit relevant pathological phenotypes.
  • Several protein-protein interaction partners of POPDC have been identified.

Conclusions:

  • POPDC proteins play a critical role in striated muscle function and health.
  • Dysregulation of POPDC genes contributes to significant muscle pathologies.
  • Further research is needed to fully elucidate POPDC protein interactions and therapeutic potential.