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The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May

CtBP1 associates in complexes with histone deacetylases (HDAC), the G9a histone methyltransferase, and LSD1 histone demethylase illustrating its role in transcriptional repression. Through its association with centrosomes, CtBP1 appears to also play a role in mitosis and Golgi complex organization.

Monoamine oxidase (MAO) is an enzyme of the mitochondrial outer membrane and catalyzes the oxidative deamination of biogenic amines throughout the body (1). MAO is critical in the neuronal metabolism of catecholamine and indolamine transmitters (2). Cultured skin fibroblasts show both MAO-A and MAO-B and both MAOs differ in molecular structure (1). MAO-A, the primary type in fibroblasts, preferentially degrades serotonin and norepinephrine (3). Only MAO-B is present in platelets and only

Rate limiting enzyme in the de novo synthesis of guanine nucleotides and therefore is involved in the regulation of cell growth. It may also have a role in the development of malignancy and the growth progression of some tumors.

Nucleostemin is a protein found in the nucleoli of embryonic stem cells, adult CNS stem cells, primitive cells in the bone marrow and cancer cells. It is not in the differentiated cells of most adult tissues. It has been suggested to play a role in controlling the cell cycle progression in stem cells and cancer cells.

Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is foun