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. [7]
Mutations have been linked to a variety of neurological disorders that can cause intellectual disability, dystonia (difficulty with movement) and seizures. [8]
GSX2 is a polypeptide chain consisting of 304 amino acids, with a molecular weight of 32,031. [9]
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]
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. [8]
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. [8]
Lissencephaly is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as agyria and pachygyria are used to describe the appearance of the surface of the brain.
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.
Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.
Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.
Homeobox protein DLX-5 is a protein that in humans is encoded by the distal-less homeobox 5 gene, or DLX5 gene. DLX5 is a member of the DLX gene family.
Homeobox protein SIX3 is a protein that in humans is encoded by the SIX3 gene.
Motor neuron and pancreas homeobox 1 (MNX1), also known as Homeobox HB9 (HLXB9), is a human protein encoded by the MNX1 gene.
Homeobox protein Emx2 is a protein that in humans is encoded by the EMX2 gene.
Homeobox protein EMX1 is a protein that in humans is encoded by the EMX1 gene. The transcribed EMX1 gene is a member of the EMX family of transcription factors. The EMX1 gene, along with its family members, are expressed in the developing cerebrum. EMX1 plays a role in specification of positional identity, the proliferation of neural stem cells, differentiation of layer-specific neuronal phenotypes and commitment to a neuronal or glial cell fate.
ASH1L is a histone-lysine N-methyltransferase enzyme encoded by the ASH1L gene located at chromosomal band 1q22. ASH1L is the human homolog of Drosophila Ash1.
WW domain-binding protein 4 is a protein that in humans is encoded by the WBP4 gene.
Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.
Homeobox protein Nkx-6.2 is a protein that in humans is encoded by the NKX6-2 gene.
Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.
Serine active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene. The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.
Lysine demethylase 6B is a protein that in humans is encoded by the KDM6B (JMJD3) gene.
Proud syndrome is a very rare genetic disorder which is characterized by severe intellectual disabilities, corpus callosum agenesis, epilepsy, and spasticity. It is a type of syndromic X-linked intellectual disability.
SLC13A5 citrate transporter disorder, or SLC13A5 Epilepsy, is a rare genetic spectrum disorder that presents with neurological symptoms. Symptoms include severe seizures, ataxia, dystonia, teeth hypoplasia, poor communication skills, difficulty standing or walking, as well as developmental delay. Other names associated with SLC13A5 Epilepsy include SLC13A5 Citrate Transporter Disorder, Citrate Transporter Disorder, SLC13A5 Deficiency, Early Infantile Epilepsy Encephalopathy 25 (EIEE25), Developmental Epilepsy Encephalopathy 25 (DEE25), and Kohlschutter-Tonz Syndrome (non-ROGDI).
Ladybird homeobox 2 (LBX2) is a protein that is encoded by the LBX2 gene, located on the second chromosome in humans, and on the sixth chromosome in mice.
