NDUFB9 Antibody – Mouse Monoclonal

This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

CTH: Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function. Defects in CTH are the cause of cystathioninuria (CSTNU). It is an autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. Belongs to the trans-sulfuration enzymes family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - cysteine and methionine; Cell cycle regulation; Amino Acid Metabolism - glycine, serine and threonine; Lyase; Energy Metabolism - nitrogen; EC 4.4.1.1; Other Amino Acids Metabolism - selenoamino acid

Chromosomal Location of Human Ortholog: 1p31.1

Cellular Component: nucleoplasm; cytoplasm; nucleus; cytosol

Molecular Function: calmodulin binding; protein binding; cystathionine gamma-lyase activity; carbon-sulfur lyase activity; homocysteine desulfhydrase activity; pyridoxal phosphate binding

Biological Process: cysteine metabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; sulfur amino acid metabolic process; unfolded protein response; protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine; sulfur amino acid catabolic process; transsulfuration; cysteine biosynthetic process; protein homotetramerization; activation of NF-kappaB transcription factor

Disease: Cystathioninuria