CBS siRNA – Cystathionine Beta-Synthase Isoform 2 (Mouse)

CBS: Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide, especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the brain to protect neurons against hypoxic injury. Defects in CBS are the cause of cystathionine beta- synthase deficiency (CBSD). CBSD is an enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. Belongs to the cysteine synthase/cystathionine beta- synthase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Lyase; Amino Acid Metabolism - glycine, serine and threonine; EC 4.2.1.22; Other Amino Acids Metabolism - selenoamino acid; Amino Acid Metabolism - cysteine and methionine

Cellular Component: intracellular membrane-bound organelle; cytoplasm; nucleolus; cytosol; nucleus

Molecular Function: identical protein binding; enzyme binding; protein homodimerization activity; cystathionine beta-synthase activity; metal ion binding; ubiquitin protein ligase binding; heme binding; lyase activity; pyridoxal phosphate binding

Biological Process: maternal process involved in pregnancy; transsulfuration; cysteine biosynthetic process; cysteine biosynthetic process from serine; superoxide metabolic process; cerebellum morphogenesis; homocysteine metabolic process; cysteine biosynthetic process via cystathionine; response to folic acid; regulation of JNK activity; blood vessel remodeling; regulation of cGMP metabolic process; amino acid biosynthetic process; regulation of blood vessel size; negative regulation of apoptosis; endochondral ossification