Sclerostin, also known as SOST, is a member of the Cerberus/DAN family of BMP antagonists. SOST is asecreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain. It shows sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. SOST is produced by the osteocyte and has anti-anabolic effects on bone formation. It is a negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.
Selenocysteine Lyase belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. Selenocysteine Lyase exists as a homodimer in the cytosol. In the brain, Selenocysteine Lyase is as an enzyme that putatively salvages Sec and recycles the selenium for selenoprotein translation. Selenocysteine Lyase catalyzes the decomposition of L-selenocysteine to L-alanine and elemental selenium. Selenocysteine Lyase can be up-regulated In acute glomerulonephritis, it can also be regulated by JUN/AP-1.
SCN3B (sodium channel; voltage-gated; type III; beta ;human IgG1-Fc chimera) belongs to the sodium channel auxiliary subunit SCN3B family. It contains 1 Ig-like C2-type (immunoglobulin-like) domain. Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. SCN3B gene encodes one member of the sodium channel beta subunit gene family; and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants; encoding the same protein; have been identified. Defects in SCN3B are the cause of Brugada syndrome type 7. A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram. It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation); the individual will faint and may die in a few minutes if the heart is not reset.
Protein SCO1 Homolog, Mitochondrial (SCO1) is a member of the SCO1/2 family. SCO1 has a homodimer structure. SCO1 is located in mitochondrion and is highly expressed in muscle, heart, and brain. It is characterized by high rates of Oxidative Phosphorylation (OxPhos). SCO1 is thought to play a important role in cellular copper homeostasis, mitochondrial redox signaling and insertion of copper into the active site of COX. The defects of SCO1 can result in Mitochondrial Complex IV Deficiency (MT-C4D). A disorder of the mitochondrial respiratory chain has heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs.
Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).Defects in SCO2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) . This disease is characterized by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. Heart and skeletal muscle show reductions in cytochrome c oxidase (COX) activity, whereas liver and fibroblasts show mild COX deficiencies.
Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis.
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