GSX2
GS homeobox 2 (GSX2) is a protein encoded by a gene of the same name, located on chromosome 4 in humans,[5] and on chromosome 5 in mice.[6]
It is especially important to regulating the development of the brain (particularly during embryonic development) and mutations have been linked to a variety of neurological disorders that can cause intellectual disability, dystonia (difficulty with movement) and seizures.[7]
Protein Structure
[edit]GSX2 is a polypeptide chain consisting of 304 amino acids, with a molecular weight of 32,031.[8]
Function
[edit]GSX2 is a member of the homeobox transcription factor family, which plays a crucial role in embryonic development, particularly in the formation of the brain's basal ganglia, a group of subcortical nuclei involved in the motor and reward systems.[7]
GSX2 is highly expressed in neural progenitors of the ganglionic eminences, which are precursors to the basal ganglia and olfactory structures. It promotes neurogenesis while inhibiting the development of precursor cells into oligodendrocytes, a type of glial cell in the central nervous system.[7]
Clinical Significance
[edit]Neurodevelopmental Disorders
[edit]Mutations in GSX2 have been linked to severe neurodevelopmental disorders characterized by specific brain malformations. This includes cases of basal ganglia agenesis, leading to symptoms such as a slowly progressive decline in neurologic function, dystonia, and intellectual impairment.[7]
Diencephalic-mesencephalic junction dysplasia syndrome
[edit]A single nucleotide polymorphism and missense mutation in GSX2, rs1578004339, has been found to be a pathogenic cause of diencephalic-mesencephalic junction dysplasia syndrome, a neurodevelopmental disorder characterised by severe intellectual disability and seizures.[7]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000180613 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035946 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2024-10-23.
- ^ "GSX2 Gene Detail". Mouse Genome Informatics. Retrieved 23 October 2024.
- ^ a b c d e De Mori, Roberta; Severino, Mariasavina; Mancardi, Maria Margherita; Anello, Danila; Tardivo, Silvia; Biagini, Tommaso; Capra, Valeria; Casella, Antonella; Cereda, Cristina; Copeland, Brett R.; Gagliardi, Stella; Gamucci, Alessandra; Ginevrino, Monia; Illi, Barbara; Lorefice, Elisa (2019-10-01). "Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2". Brain: A Journal of Neurology. 142 (10): 2965–2978. doi:10.1093/brain/awz247. ISSN 1460-2156. PMC 6776115. PMID 31412107.
- ^ "UniProt". www.uniprot.org. Retrieved 2024-10-23.