OCTD; OTCase; Ornithine Transcarbamylase; Ornithine Carbamoyltransferase

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

Polyclonal

Rabbit

200ug/ml (lot specific)

Manufactured in an ISO 9001:2008 and ISO 13485:2003 Certified Laboratory.

Manufactured in a lab with traceable raw materials. Bulk orders can typically be prepared to the customera??s specifications, please inquire.

Small volumes of anti-OCT antibody 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.

Western Blot (WB), Immunohistochemistry (IHC)

39,935 Da

ornithine carbamoyltransferase

ornithine carbamoyltransferase, mitochondrial

Ornithine carbamoyltransferase, mitochondrial

OTCase??[Similar Products]

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; EC 2.1.3.3; Mitochondrial; Transferase

Chromosomal Location of Human Ortholog: Xp11.4

Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion

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

Biological Process: anion homeostasis; arginine biosynthetic process via ornithine; citrulline biosynthetic process; liver development; midgut development; ornithine catabolic 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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