Superoxide Dismutases (SODs), originally identified as Indophenoloxidases (IPOs), are enzymes that catalyze the conversion of naturally-occuring but harmful superoxide radicals into molecular oxygen and hydrogen peroxide. Superoxide Dismutases 2 (SOD2), also known as Manganese (Mn) SOD, mitochondrial SOD, and IPO-B, is an intramitochondrial 22 kDa homotetramer. Each SOD2 monomer binds one Mn2+ ion. Three isozymes of SOD have been identified and are functionally related but have very modest sequence homology. SOD2 shares only 23% and 17% sequence identity with SOD1 and SOD3, respectively. SOD2 is, however, well conserved from species to species and shares 90% and 87% homology with mouse and rat SOD2, respectively. Oxidative stress has been implicated in many diseases and the chief source of reactive oxygen species within the cell is the mitochondrion. SOD2 is a free radical scavenging enzyme that protects against damage from superoxide produced as a byproduct of oxidative phosphorylation. SOD2 is required for normal biologic function of tissues by maintaining the integrity of mitochondrial enzymes susceptible to inactivation by superoxide. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer.
ATPase Na+/K+ transporting subunit alpha 1(ATP1A1) Homo sapiens The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene.
This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants.
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease.
Transcription factor that acts as a transcriptional activator.
SRY-related high mobility group box (SOX) proteins comprise a large family of widely conserved transcription factors. SOX proteins do not directly mediate transcription, but require binding partners that regulate their ability to mediate transcription of target genes that control cell fate determination and development .Transcription factor Sox17 is a Sox family protein with an established role in endoderm specification during development. In addition, Sox17 plays essential roles in the maintenance of the hematopoietic stem cell pool and for vascular morphogenesis during development. Sox17 negatively regulates oligodendrocyte precursor differentiation by antagonizing β-catenin signaling. Mutation in the corresponding Sox17 gene in humans is associated with a form of vesicoureteral reflux, a disorder characterized by congenital kidney and urinary tract defects.
Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation.
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