Ornithine Carbamoyltransferase (OTC) (NM_000531) Human Recombinant Protein
Selected Variant
PH36089M5
Size: 20 µg
Product Specifications
Background
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]
Overview
Purified recombinant protein of Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein
Synonyms
OCTD; OTCD
Gene ID
5009
UniProt
P00480
Accession Number mRNA
NM_000531
Chromosomal Location
Xp11.4
Expression System
HEK293
Tag
C-Myc/DDK
Related Pathways
Arginine and proline metabolism, Metabolic pathways
Field of Research
Arginine and proline metabolism, Metabolic pathways
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
Function
Druggable Genome
Molecular Weight
36.1 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
OTC
Species
Human
Protein ID
NP_000522
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/5009
Uniprot URL
https://www.uniprot.org/uniprot/P00480
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_000531
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_000522
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