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

Lifang Hu, Yunyun Xiao, Zhipeng Xiong, Fan Zhao, Chong Yin, Yan Zhang, Peihong Su, Dijie Li, Zhihao Chen, Xiaoli Ma, Ge ZHANG, Airong Qian*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

13 Citations (Scopus)

Abstract

Spectraplakins are a family of evolutionarily conserved gigantic proteins and play critical roles in many cytoskeleton-related processes. Microtubule actin crosslinking factor 1 (MACF1) is one of the most versatile spectraplakin with multiple isoforms. As a broadly expressed mammalian spectraplakin, MACF1 is important in maintaining normal functions of many tissues. The loss-of-function studies using knockout mouse models reveal the pivotal roles of MACF1 in embryo development, skin integrity maintenance, neural development, bone formation, and colonic paracellular permeability. Mutation in the human MACF1 gene causes a novel myopathy genetic disease. In addition, abnormal expression of MACF1 is associated with schizophrenia, Parkinson's disease, cancer and osteoporosis. This demonstrates the crucial roles of MACF1 in physiology and pathology. Here, we review the research advances of MACF1’s roles in specific tissue and in human diseases, providing the perspectives of MACF1 for future studies.

Original languageEnglish
Pages (from-to)3-8
Number of pages6
JournalSeminars in Cell and Developmental Biology
Volume69
DOIs
Publication statusPublished - Sep 2017

Scopus Subject Areas

  • Developmental Biology
  • Cell Biology

User-Defined Keywords

  • Human disease
  • Knockout mouse model
  • MACF1
  • Spectraplakin
  • Tissue-specific function

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