OTC, 33-354aa, Human, His tag, E Coli | MyBioSource MBS204464 product information

product summary

company name :

MyBioSource

product type :

protein

product name :

OTC, 33-354aa, Human, His tag, E Coli

catalog :

MBS204464

quantity :

0.05 mg

price :

375 USD

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS204464

products type :

Recombinant Protein

products full name :

OTC, 33-354aa, Human, His tag, E Coli

products short name :

OTC

products name syn :

ornithine carbamoyltransferase; OCTD; OTCase

other names :

ornithine carbamoyltransferase, mitochondrial; Ornithine carbamoyltransferase, mitochondrial; ornithine carbamoyltransferase, mitochondrial; OTCase; ornithine transcarbamylase; ornithine carbamoyltransferase; Ornithine transcarbamylase; OTCase

products gene name :

OTC

other gene names :

OTC; OTC; OCTD; OTCase

uniprot entry name :

OTC_HUMAN

sequence length :

354

sequence :

MGSSHHHHHH SSGLVPRGSH MGSHMNKVQL KGRDLLTLKN FTGEEIKYML WLSADLKFRI KQKGEYLPLL QGKSLGMIFE KRSTRTRLST ETGFALLGGH PCFLTTQDIH LGVNESLTDT ARVLSSMADA VLARVYKQSD LDTLAKEASI PIINGLSDLY HPIQILADYL TLQEHYSSLK GLTLSWIGDG NNILHSIMMS AAKFGMHLQA ATPKGYEPDA SVTKLAEQYA KENGTKLLLT NDPLEAAHGG NVLITDTWIS MGQEEEKKKR LQAFQGYQVT MKTAKVAASD WTFLHCLPRK PEEVDDEVFY SPRSLVFPEA ENRKWTIMAV MVSLLTDYSP QLQKPKF

purity :

> 90% by SDS - PAGE

form :

Liquid. In 20mM MES buffer (pH 6.0) containing 2mM DTT, 10% glycerol, 100mM NaCl

concentration :

0.5mg/ml (determined by Bradford assay)

storage stability :

Can be stored at 4 degree C short term (1-2 weeks). For long term storage, aliquot and store at -20 degree C or -70 degree C. Avoid repeated freezing and thawing cycles.

tested application :

SDS-PAGE

other info1 :

Antigen Species: Human. Tag: His-tag

other info2 :

Expression System: E Coli

products categories :

Metabolism

products description :

OTC, also called ornithine carbamoyltransferase, belongs to the ATCase/OTCase family. OTC plays a vital role in the urea cycle, catalyzing the second step in this pathway: the formation of L-citrulline from L-orthinine and carbamoyl phosphate. In humans, the urea cycle is an important pathway to detoxification of ammonia. Mutations in the gene encoding OTC are associated with the X-linked disorder OTCD (ornithine carbamoyltransferase deficiency). OTCD is a disorder of the urea cycle characterized by hyperammonemia. Recombinant human OTC protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.

products references :

Trivedi, M., et al. (2001) J. Clin. Gastroenterol. 32: 340-343. Yamaguchi, S., et al. (2006) Hum. Mutat. 27: 626-632.

ncbi gi num :

38788445

ncbi acc num :

NP_000522

ncbi gb acc num :

NM_000531.5

ncbi mol weight :

38.9kDa (347aa), confirmed by MALDI-TOF

ncbi pathways :

Arginine And Proline Metabolism Pathway (82957); Arginine And Proline Metabolism Pathway (323); Biosynthesis Of Amino Acids Pathway (790012); Biosynthesis Of Amino Acids Pathway (795174); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Amino Acids And Derivatives Pathway (106169); Urea Cycle Pathway (413351); Urea Cycle Pathway (106171); Urea Cycle Pathway (468222)

ncbi summary :

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]

uniprot summary :

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; Amino Acid Metabolism - arginine and proline; 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; urea cycle; response to insulin stimulus. Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

size1 :

0.05 mg

price1 :

375 USD

size2 :

0.25 mg

price2 :

925

more info or order :

MyBioSource product webpage