catalog number :
MBS9420517
products type :
Recombinant Protein
products full name :
Recombinant mouse Ornithine carbamoyltransferase, mitochondrial
products short name :
[Ornithine carbamoyltransferase]
products name syn :
[Ornithine transcarbamylase; OTCase]
other names :
[ornithine carbamoyltransferase, mitochondrial; Ornithine carbamoyltransferase, mitochondrial; ornithine carbamoyltransferase, mitochondrial; ornithine transcarbamylase; Ornithine transcarbamylase; OTCase]
products gene name :
[OTC]
other gene names :
[Otc; Otc; Sf; spf; AI265390; OTCase]
sequence positions :
[Full Length, 33-354aa]
sequence :
SQVQLKGRDLLTLKNFTGEEIQYMLWLSADLKFRIKQKG
EYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPSF
LTTQDIHLGVNESLTDTARVLSSMTDAVLARVYKQSDLD
TLAKEASIPIVNGLSDLYHPIQILADYLTLQEHYGSLKG
LTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDP
NIVKLAEQYAKENGTKLSMTNDPLEAARGGNVLITDTWI
SMGQEDEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLP
RKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTD
YSPVLQKPKF
purity :
Greater than 90% as determined by SDS-PAGE.
form :
20mM Tris-HCl based buffer, pH8.0
storage stability :
Store at -20°C, for extended storage, conserve at -20°C or -80°C. Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
other info2 :
Tag Info: His-SUMO-tag
ncbi acc num :
NP_032795.1
ncbi gb acc num :
NM_008769.4
ncbi pathways :
Amino Acid Metabolism Pathway (198416); Arginine And Proline Metabolism Pathway (83157); Arginine And Proline Metabolism Pathway (323); Biosynthesis Of Amino Acids Pathway (790952); Biosynthesis Of Amino Acids Pathway (795174); Metabolic Pathways (132962); Metabolism Pathway (971233); Metabolism Of Amino Acids And Derivatives Pathway (970519); Urea Cycle Pathway (421751); Urea Cycle Pathway (970518)
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: Amino Acid Metabolism - arginine and proline; EC 2.1.3.3; Mitochondrial; Transferase. Chromosomal Location of Human Ortholog: X A1.1 X 4.66 cM. Cellular Component: cytoplasm; mitochondrial inner membrane; 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; ornithine catabolic process; ornithine metabolic process; urea cycle