IMR Press / FBL / Volume 21 / Issue 3 / DOI: 10.2741/4413

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Review

The MID1 protein is a central player during development and in disease

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1 Institute of Human Genetics University Medical Centre of the Johannes Gutenberg University, Langenbeckstr. 1, 55131 Mainz, Germany
2 Department of Molecular Embryology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108 Freiburg, Germany
3 Department of Chromatin Regulation, Max Planck Institute of Immunobiology and Epigenetics, 79108 Freiburg, Germany
4 Department of Experimental Medicine I, Nikolaus-Fiebiger Center for Molecular Medicine, Friedrich-Alexander University, 90154 Erlangen, Germany
5 German Center for Neurodegenerative Diseases (DZNE), Sigmund-Freud-Str.25, 53127 Bonn, Germany
Academic Editors:Nevim Aygun, Siamak Tabibzadeh
Front. Biosci. (Landmark Ed) 2016, 21(3), 664–682; https://doi.org/10.2741/4413
Published: 1 January 2016
Abstract

Loss-of-function mutations in the MID1 gene cause a rare monogenic disorder, Opitz BBB/G syndrome (OS), which is characterized by malformations of the ventral midline. The MID1 gene encodes the MID1 protein, which assembles a large microtubule-associated protein complex. Intensive research over the past several years has shed light on the function of the MID1 protein as a ubiquitin ligase and regulator of mTOR signalling and translational activator. As a central player in the cell MID1 has been implicated in the pathogenesis of various other disorders in addition to OS including cancer and neurodegenerative diseases. Influencing the activity of the MID1 protein complex is a promising new strategy for the treatment of these diseases. In this review we will summarize the current knowledge about MID1, its involvement in the pathogenesis of OS and other diseases and possible strategies for therapy development.

Keywords
MID1
Opitz BBB/G Syndrome
mTOR
PP2A
SHH
Review
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