Home
Protein
Recombinant Proteins
Recombinant Human Ornithine transcarbamylase, mitochondrial (OTC)

Recombinant Human Ornithine transcarbamylase, mitochondrial (OTC)

^{In Stock}

Code	CSB-EP017270HU
Abbreviation	Recombinant Human OTC protein
MSDS	MSDS Datasheet
Size	$224
	Order now
Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
Have Questions?	Leave a Message or Start an on-line Chat

Product Details
Related Products
Customer Reviews and Q&A
Target Background

Product Details

Purity

Greater than 90% as determined by SDS-PAGE.

Target Names

OTC

Uniprot No.

P00480

Research Area

Metabolism

Alternative Names

EC 2.1.3.3; MGC129967; MGC129968; MGC138856; OCTD; Ornithine Carbamoyltransferase; Ornithine carbamoyltransferase mitochondrial; Ornithine carbamoyltransferase, mitochondrial; Ornithine transcarbamylase; Otc; OTC_HUMAN; OTCase

Species

Homo sapiens (Human)

Source

E.coli

Expression Region

33-354aa

Target Protein Sequence

NKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.

Mol. Weight

52.1kDa

Protein Length

Full Length of Mature Protein

Tag Info

N-terminal 6xHis-SUMO-tagged

Form

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

3-7 business days

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet & COA

Please contact us to get it.

Description

This premium Recombinant Human OTC protein is a vital component for research in metabolism. Ornithine transcarbamylase, a mitochondrial enzyme, plays a critical role in the urea cycle, essential for the detoxification of ammonia and amino acid metabolism. This full length of mature protein (33-354aa) is expressed in E.coli, providing a dependable tool for a wide range of applications in metabolism research.

Featuring an N-terminal 6xHis-SUMO tag, our Recombinant Human OTC protein enables efficient purification and detection processes. With a purity greater than 90% as determined by SDS-PAGE, you can have confidence in the superior quality of this protein to support your research endeavors. Available in both liquid and lyophilized powder forms, our Recombinant Human OTC protein is tailored to meet your specific experimental needs and propel your scientific discoveries forward.

Customer Reviews and Q&A

■ Customer Reviews

There are currently no reviews for this product.

Submit a Review here

Target Background

Function

Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline. The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion.

Gene References into Functions

Whole exome sequencing successfully identified disease-causing mutations including two novel ones: the c.209_210delAA (p.Lys70Argfs*17) and the c.850T>A (p.Tyr284Asn). PMID: 30223008
indicate that the proportion of about 20-30% of hepatocytes expressing the functional OTC protein is not sufficient to maintain metabolic stability. X-inactivation ratios assessed in liver biopsies taken from heterozygous females with X-linked disorders should not be considered representative of the whole liver PMID: 29623395
The measurement of serum ornithine carbamoyltransferase concentration may provide a useful marker of disease severity, and thus could be a useful marker for a high risk of hepatocellular carcinoma occurrence. PMID: 28824294
Low expression of OTC is associated with glioblastoma. PMID: 27431689
In Korean patients with OTC deficiency, mutations in OTC are genetically heterogeneous. PMID: 25994866
Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in a child with hyperammonemia and his asymptomatic mother. PMID: 26446336
Ornithine transcarbamylase deficiency was genetically heterogeneous in seven Korean patients with confirmed ornithine transcarbamylase deficiency diagnosis by biochemical findings and/or genetic analysis, together with two novel mutations in the OTC gene PMID: 25011434
The corresponding OTC tissue enzyme activities were between 3-6% of normal control in mouse and human liver. The use of the cryptic splice sites was reproduced in minigenes carrying murine or human mutant sequences PMID: 25853564
OTC mutation and phenotype in ornithine transcarbamylase deficiency PMID: 26059767
aim of this study was to provide clues for recognition of OTCD in adults and analyze the environmental factors that, interacting with OTC gene mutations, might have triggered acute clinical manifestations PMID: 25026867
HNF-4alpha most likely plays an essential role in the initiation of OTC transcription in human. PMID: 25056436
Data indicate that all of the three patients have carried ornithine transcarbamylase gene mutations, patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). PMID: 25297582
V339G and W332S mutations of OTC have been discovered for the first time PMID: 24711021
carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia coma during the postpartum period and at times of metabolic stress. PMID: 21956151
In patients with a clinical and biochemical presentation of OTCD and negative OTC sequencing, whole genome or targeted chromosomal microarray analysis (CMA) with coverage of the OTC and neighboring genes should be performed as a reflex test. PMID: 20817516
Mutations in the regulatory regions of OTC can lead to ornithine carbamoyltransferase deficiency and should be included in genetic testing. PMID: 20127982
These results indicate that mutant alleles with late-onset OCT deficiency syndrome have recurrently arisen, have been retained in some populations, and some appear to hvae a common ancestor. PMID: 19893582
deficiency in ornithine carbamoyltransferase enzymatic function conferred by the R40H mutation is likely caused by enhanced degradation of the preprotein in the cytosol. PMID: 11768581
ornithine transcarbamylase (OTC) deficiency: review of mutations and polymorphisms in the human ornithine transcarbamylase gene PMID: 11793468
seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency PMID: 11793483
novel mutations in the ornithine transcarbamylase gene PMID: 12083811
Haplotype analysis and phylogeny of polymorphisms of this protein were studied in two male populations. PMID: 12516615
Using 2 (CA)n flanking markers of the OTC gene (DXS997 & DXS1068), the haplotypic background of 37 different mutational events was defined & compared with random control chromosomes. 1 particular haplotype is a risk factor for carrying OTC mutations. PMID: 15300856
Mutations in the human ornithine transcarbamylase (OTC) gene is detected in patients with Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency. PMID: 15692798
Novel mutations within the OTC gene are associated with Ornithine transcarbamylase (OTC) deficiency disorder. PMID: 16786505
Novel mutations p.Leu9X, p.Arg26Pro, p.Gly100Arg, p.Met205Thr, p.Lys221Asn, p.Asp249Gly, p.Phe281Ser, p.Val323Met, c.571delC, c.853delC, and c.796-805del are associated with OTC deficiency. PMID: 17041896
Describe a contiguous gene syndrome involving the RPGR, OTC and TM4SF2 genes in a male patient with severe neonatal ornithine transcarbamylase deficiency. PMID: 17570074
Data show that OCT/ALT is a potent indicator for the diagnosis and the prognosis of hepatocellular carcinoma. PMID: 17570354
our results suggest the involvement of a new pathway in AD brains involving the urea cycle. PMID: 17893704
In ten families with late-onset ornithine transcarbamylase (OTC) deficiency in male patients, three mutant alleles-R40H, R277W, and Y55D-were identified. PMID: 18030415
Two known and three novel mutations of the ornithine transcarbamylase (OTC) gene are reported in five Japanese patients with OTC deficieny including two neonatal-onset, one late-onset, and two symptomatic female patients. PMID: 18204299
The rs5963409 minor allele was weakly but significantly associated with an increased risk of developing AD. PMID: 18983895
Deletions and gene rearrangements of OTC gene are associated with Ornithine Carbamoyltransferase Deficiency Disease. PMID: 19138872
Hypocitrullinemia in expanded newborn screening is not a reliable marker for OTCD. PMID: 19359120
the identification of novel disease-causing mutations in Ornithine transcarbamylase deficiency and increases the knowledge on possible mutational mechanisms generating deletions in ornithine transcaramylase. PMID: 19475717
OTC rs5963409 polymorphism may be associated with hypertension and coronary vasomotion in males PMID: 19574962