Ornithine carbamoyltransferase mitochondrial, Ornithine transcarbamylase, OTCase, OCTD, EC 2.1.3.3.

For Research Use Only. Not for use in diagnostic procedures.

E Coli

Greater than 90% as determined by SDS-PAGE.

The OTC solution (0.5mg/ml) contains 20mM MES buffer (pH 6.0), 100mM Nacl, 2mM DTT and 10% glycerol.

Store at 4 degree C if entire vial will be used within 2-4 weeks. Store, frozen at -20 degree C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.

Small volumes of OTC recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Description: OTC Recombinant produced in E Coli is a single polypeptide chain containing 347 amino acids (33-354) and having a molecular mass of 38.9kDa.OTC is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Introduction: OTC is a member of the ATCase/OTCase family. OTC has a key part in the urea cycle, catalyzing the second step in this pathway: the transformation of L-orthinine and carbamoyl phosphate to L-citrulline. In humans, the urea cycle is a vital pathway to detoxification of ammonia. Alterations in the gene encoding OTC are linked to the X-linked disorder OTCD (ornithine carbamoyltransferase deficiency). OTCD disorder of the urea cycle is characterized by hyperammonemia.

ENZYMES; Enzymes; Transferase

39,935 Da

ornithine carbamoyltransferase

ornithine carbamoyltransferase, mitochondrial; OTCase; ornithine transcarbamylase

Ornithine carbamoyltransferase, mitochondrial

OTCase??[Similar Products]

OTC_HUMAN

This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]

OTC: Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD). OTCD is an X- linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. Belongs to the ATCase/OTCase family.

Protein type: Amino Acid Metabolism - arginine and proline; Mitochondrial; Transferase; EC 2.1.3.3

Chromosomal Location of Human Ortholog: Xp21.1

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane

Molecular Function: amino acid binding; ornithine carbamoyltransferase activity; phospholipid binding; phosphate binding

Biological Process: response to drug; citrulline biosynthetic process; response to zinc ion; midgut development; arginine biosynthetic process via ornithine; liver development; ornithine catabolic process; response to insulin stimulus; urea cycle

Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

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