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MACF1, versatility in tissue-specific function and in human disease.

Lifang Hu1, Yunyun Xiao1, Zhipeng Xiong1

  • 1Laboratory for Bone Metabolism, Key Laboratory for Space Bioscience and Biotechnology, School of Life Sciences, Northwestern Polytechnical University, Xi'an, Shaanxi 710072, China; Shenzhen Research Institute of Northwestern Polytechnical University, Shenzhen, 518057, China; NPU-HKBU Joint Research Centre for Translational Medicine on Musculoskeletal Health in Space, Northwestern Polytechnical University, Xi'an 710072, China.

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|June 5, 2017
PubMed
Summary
This summary is machine-generated.

Microtubule actin crosslinking factor 1 (MACF1) is a giant protein crucial for cell structure and tissue function. Research highlights MACF1

Keywords:
Human diseaseKnockout mouse modelMACF1SpectraplakinTissue-specific function

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Area of Science:

  • Cell Biology
  • Molecular Biology
  • Genetics

Background:

  • Spectraplakins are large, conserved proteins essential for cytoskeleton organization.
  • Microtubule actin crosslinking factor 1 (MACF1) is a versatile spectraplakin with diverse roles.
  • MACF1 is broadly expressed in mammals, indicating widespread physiological importance.

Purpose of the Study:

  • To review recent advances in understanding MACF1's functions.
  • To explore MACF1's roles in specific tissues and human diseases.
  • To provide perspectives for future research directions on MACF1.

Main Methods:

  • Review of existing literature on MACF1.
  • Analysis of loss-of-function studies using knockout mouse models.
  • Examination of human genetic studies and disease associations.

Main Results:

  • MACF1 is vital for embryonic development, skin integrity, neural development, and bone formation.
  • MACF1 regulates colonic paracellular permeability.
  • MACF1 gene mutations are linked to a novel myopathy; abnormal expression is associated with various diseases including cancer and neurodegenerative disorders.

Conclusions:

  • MACF1 plays critical roles in both normal physiological processes and pathological conditions.
  • Further research into MACF1 is warranted due to its significance in human health and disease.