产品名称
OTC Rabbit Polyclonal Antibody
别名
Ornithine carbamoyltransferase, mitochondrial (EC 2.1.3.3) (Ornithine transcarbamylase) (OTCase)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.60% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/5009
Human Swissprot No.
P00480
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P00480/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/18416
Mouse Swissprot No.
P11725
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P11725
Rat Gene Link
https://www.uniprot.org/uniprot/25611
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/P00481
免疫原
Synthesized peptide derived from human OTC AA range: 275-325
特异性
This antibody detects endogenous levels of OTC at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Mainly expressed in liver and intestinal mucosa.
细胞定位
Mitochondrion matrix .
功能
catalytic activity:Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline.,disease:Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]. 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.,online information:OTCase website,pathway:Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1.,similarity:Belongs to the ATCase/OTCase family.,subunit:Homotrimer.,tissue specificity:Mainly in liver and intestinal mucosa.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
