Anti-OTC Antibody (CAB9834)
- SKU:
- CAB9834
- Product type:
- Antibody
- Application:
- WB
- Application:
- IHC
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Metabolism
Frequently bought together:
Description
抗体名: | Anti-OTC Antibody |
抗体コード: | CAB9834 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB IHC |
反応性: | Human, Mouse, Rat |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 215-354 of human OTC (NP_000522.3). |
申し込み: | WB IHC |
推奨希釈: | WB 1:1000 - 1:4000 IHC 1:50 - 1:100 |
反応性: | Human, Mouse, Rat |
ポジティブサンプル: | Mouse liver, Mouse small intestine, Rat liver, Rat small intestine |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 215-354 of human OTC (NP_000522.3). |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | LQAA TPKG YEPD ASVT KLAE QYAK ENGT KLLL TNDP LEAA HGGN VLIT DTWI SMGQ EEEK KKRL QAFQ GYQV TMKT AKVA ASDW TFLH CLPR KPEE VDDE VFYS PRSL VFPE AENR KWTI MAVM VSLL TDYS PQLQ KPKF |
遺伝子ID: | 5009 |
Uniprot: | P00480 |
セルラーロケーション: | Mitochondrion matrix |
計算された分子量: | 39kDa |
観察された分子量: | 38kDa |
同義語: | OTC, OCTD |
バックグラウンド: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:EC 2.1.3.3; Transferase; Amino Acid Metabolism - arginine and proline; Mitochondrial Chromosomal Location of Human Ortholog: Xp21.1 Cellular Component: mitochondrial matrix; mitochondrion Molecular Function:ornithine carbamoyltransferase activity Biological Process: arginine biosynthetic process via ornithine; citrulline biosynthetic process; ornithine catabolic process; urea cycle Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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 Code: | P00480 |
NCBI GenInfo Identifier: | 84028235 |
NCBI Gene ID: | 5009 |
NCBI Accession: | P00480.3 |
UniProt Secondary Accession: | P00480,Q3KNR1, Q6B0I1, Q9NYJ5, A8K9P2, D3DWB0, |
UniProt Related Accession: | P00480 |
Molecular Weight: | 39,935 Da |
NCBI Full Name: | Ornithine carbamoyltransferase, mitochondrial |
NCBI Synonym Full Names: | ornithine carbamoyltransferase |
NCBI Official Symbol: | OTC |
NCBI Official Synonym Symbols: | OCTD |
NCBI Protein Information: | ornithine carbamoyltransferase, mitochondrial |
UniProt Protein Name: | Ornithine carbamoyltransferase, mitochondrial |
UniProt Synonym Protein Names: | Ornithine transcarbamylase; OTCase |
UniProt Gene Name: | OTC |
UniProt Entry Name: | OTC_HUMAN |
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