Anti-beta glucuronidase (GUSB) Antibody (CAB19248)
- SKU:
- CAB19248
- Product type:
- Antibody
- Antibody Type:
- Monoclonal Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Synonyms:
- GUSB
- Synonyms:
- BG
- Synonyms:
- MPS7
- Synonyms:
- beta-glucuronidase
Description
| I抗体名: | beta glucuronidase (GUSB) Rabbit mAb |
| 抗体コード: | CAB19248 |
| サイズ: | 50uL, 100uL |
| 同義語: | GUSB, BG, MPS7, beta-glucuronidase |
| 申し込み: | WB |
| 反応性: | Human |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant protein of human beta glucuronidase (beta glucuronidase (GUSB)) . |
| 申し込み: | WB |
| 推奨される希釈: | WB 1:500 - 1:2000 |
| 反応性: | Human |
| ポジティブサンプル: | HepG2, A-549, HL-60 |
| 免疫原: | Recombinant protein of human beta glucuronidase (beta glucuronidase (GUSB)) . |
| 精製方法: | Affinity purification |
| 保管所: | 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: | 2990 |
| Uniprot: | P08236 |
| セルラーロケーション: | Lysosome |
| 計算された分子量: | 78kDa |
| 観察された分子量: | 75KDa |
| UniProt Protein Function: | GUSB: Plays an important role in the degradation of dermatan and keratan sulfates. Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7); also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. Mucopolysaccharidosis type 7 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 glycosyl hydrolase 2 family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Glycan Metabolism - glycosaminoglycan degradation; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Hydrolase; Carbohydrate Metabolism - starch and sucrose; Carbohydrate Metabolism - pentose and glucuronate interconversions; Xenobiotic Metabolism - drug metabolism - other enzymes; EC 3.2.1.31 Chromosomal Location of Human Ortholog: 7q21.11 Cellular Component: lysosomal lumen; membrane; intracellular membrane-bound organelle Molecular Function:protein domain specific binding; beta-glucuronidase activity; receptor binding Biological Process: glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; hyaluronan metabolic process; hyaluronan catabolic process Disease: Mucopolysaccharidosis, Type Vii |
| NCBI Summary: | This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014] |
| UniProt Code: | P08236 |
| NCBI GenInfo Identifier: | 146345377 |
| NCBI Gene ID: | 2990 |
| NCBI Accession: | P08236.2 |
| UniProt Secondary Accession: | P08236,Q549U0, Q96CL9, B4E1F6, E9PCV0, |
| UniProt Related Accession: | P08236 |
| Molecular Weight: | 651 |
| NCBI Full Name: | Beta-glucuronidase |
| NCBI Synonym Full Names: | glucuronidase, beta |
| NCBI Official Symbol: | GUSB |
| NCBI Official Synonym Symbols: | BG; MPS7 |
| NCBI Protein Information: | beta-glucuronidase; beta-G1; beta-D-glucuronidase |
| UniProt Protein Name: | Beta-glucuronidase |
| UniProt Synonym Protein Names: | Beta-G1 |
| Protein Family: | Beta-glucuronidase |
| UniProt Gene Name: | GUSB |
| UniProt Entry Name: | BGLR_HUMAN |