Abstract:
Microtubule actin crosslinking factor 1 (MACF1) is an important cytoskeleton protein, which belongs to the spectraplakin family. In recent years, more and more studies have found that MACF1 is widely expressed in brain, heart, lung, skeletal muscle, nerve, liver, stomach, kidney and skin of both human and mouse. It shows important regulatory roles in cellular function, embryo development, and physiological activities of various tissues. Based on the introduction of MACF1′s coding gene, structure and protein isoforms, combined with the recent research advances of MACF1′s physiological and pathological functions, this paper summarized the regulation effects and mechanisms of MACF1 on cytoskeleton dynamics, cell migration, cell proliferation and differentiation in detail. The important research advances of MACF1 in controlling embryo development, maintaining skin integrity, promoting nervous system development, regulating heart function, keeping intestinal permeability and bone tissue development were reviewed. Meanwhile, the correlations and potential pathogenesis of MACF1 with human genetic diseases (spectraplakinopathy type Ⅰ, etc.), nerve diseases (Parkinson′s disease, schizophrenia, Alzheimer′s disease, etc.), bone diseases (osteoporosis, etc.) and cancers(lung cancer, glioma, breast cancer, colon cancer, melanoma, gastric cancer, etc.) were discussed. Finally, the key research directions of MACF1 in the future were proposed for deeply uncovering MACF1′s function, elucidating the molecular mechanism of MACF1 related diseases, as well as preventing and treating these diseases.
