Ornithine transcarbamylase; OTCase

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

E Coli or Yeast or Baculovirus or Mammalian Cell

Greater than 90% as determined by SDS-PAGE. (lot specific)

Liquid containing glycerol

This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.

Sterile filter available upon request.

Low endotoxin available upon request.

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

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.

Metabolism

(Note: Representative image, actual molecular weight may vary depending on Tag type and expression host)

52.12kD

ornithine carbamoyltransferase

ornithine carbamoyltransferase, mitochondrial

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

Chromosomal Location of Human Ortholog: Xp21.1

Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion

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

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

Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

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