The MID1 gene product in physiology and disease.
Journal
Gene
ISSN: 1879-0038
Titre abrégé: Gene
Pays: Netherlands
ID NLM: 7706761
Informations de publication
Date de publication:
15 Jul 2020
15 Jul 2020
Historique:
received:
11
12
2019
revised:
22
02
2020
accepted:
06
04
2020
pubmed:
14
4
2020
medline:
19
5
2020
entrez:
14
4
2020
Statut:
ppublish
Résumé
MID1 is an E3 ubiquitin ligase of the Tripartite Motif (TRIM) subfamily of RING-containing proteins, hence also known as TRIM18. MID1 is a microtubule-binding protein found in complex with the catalytic subunit of PP2A (PP2Ac) and its regulatory subunit alpha 4 (α4). To date, several substrates and interactors of MID1 have been described, providing evidence for the involvement of MID1 in a plethora of essential biological processes, especially during embryonic development. Mutations in the MID1 gene are responsible of the X-linked form of Opitz syndrome (XLOS), a multiple congenital disease characterised by defects in the development of midline structures during embryogenesis. Here, we review MID1-related physiological mechanisms as well as the pathological implication of the MID1 gene in XLOS and in other clinical conditions.
Identifiants
pubmed: 32283114
pii: S0378-1119(20)30324-3
doi: 10.1016/j.gene.2020.144655
pmc: PMC8011326
mid: NIHMS1672207
pii:
doi:
Substances chimiques
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
144655Subventions
Organisme : NIGMS NIH HHS
ID : R01 GM089820
Pays : United States
Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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