Anti-UROS Antibody (CAB18390)
- SKU:
- CAB18390
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
Frequently bought together:
Description
| 抗体名: | Anti-UROS Antibody |
| 抗体コード: | CAB18390 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | WB |
| 反応性: | Human |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant protein of human UROS. |
| 申し込み: | WB |
| 推奨希釈: | WB 1:500 - 1:2000 |
| 反応性: | Human |
| ポジティブサンプル: |
| 免疫原: | Recombinant protein of human UROS. |
| 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: | Email for sequence |
| 遺伝子ID: | 7390 |
| Uniprot: | P10746 |
| セルラーロケーション: | |
| 計算された分子量: | |
| 観察された分子量: | Refer to figures |
| 同義語: | UROIIIS, UROS |
| バックグラウンド: |
| UniProt Protein Function: | UROS: Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme). Defects in UROS are the cause of congenital erythropoietic porphyria (CEP); also known as Gunther disease. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer. Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non- immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. Belongs to the uroporphyrinogen-III synthase family. |
| UniProt Protein Details: | Protein type:EC 4.2.1.75; Mitochondrial; Lyase; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll Chromosomal Location of Human Ortholog: 10q25.2-q26.3 Cellular Component: cytosol; mitochondrion Molecular Function:cofactor binding; uroporphyrinogen-III synthase activity Biological Process: heme biosynthetic process; porphyrin metabolic process; protoporphyrinogen IX biosynthetic process; response to antibiotic; uroporphyrinogen III biosynthetic process Disease: Porphyria, Congenital Erythropoietic |
| NCBI Summary: | The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008] |
| UniProt Code: | P10746 |
| NCBI GenInfo Identifier: | 4557873 |
| NCBI Gene ID: | 7390 |
| NCBI Accession: | NP_000366.1 |
| UniProt Secondary Accession: | P10746,Q9H2T1, B2RC13, D3DRF7, |
| UniProt Related Accession: | P10746 |
| Molecular Weight: | 28,628 Da |
| NCBI Full Name: | uroporphyrinogen-III synthase |
| NCBI Synonym Full Names: | uroporphyrinogen III synthase |
| NCBI Official Symbol: | UROS |
| NCBI Official Synonym Symbols: | UROIIIS |
| NCBI Protein Information: | uroporphyrinogen-III synthase |
| UniProt Protein Name: | Uroporphyrinogen-III synthase |
| UniProt Synonym Protein Names: | Hydroxymethylbilane hydrolyase [cyclizing]; Uroporphyrinogen-III cosynthase |
| Protein Family: | Uroporphyrinogen-III synthase |
| UniProt Gene Name: | UROS |
| UniProt Entry Name: | HEM4_HUMAN |