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

Semin Cell Dev Biol. 2017 Sep:69:3-8. doi: 10.1016/j.semcdb.2017.05.017. Epub 2017 May 31.

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.

Keywords: Human disease; Knockout mouse model; MACF1; Spectraplakin; Tissue-specific function.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disease*
  • Humans
  • Microfilament Proteins / chemistry
  • Microfilament Proteins / metabolism*
  • Organ Specificity*
  • Wound Healing

Substances

  • MACF1 protein, human
  • Microfilament Proteins