Description
| 抗体名: | SGSH Antibody (PACO43872) |
| 抗体コード: | PACO43872 |
| サイズ: | 50ul |
| 宿主種: | Rabbit |
| 申し込み: | ELISA, IHC |
| 推奨される希釈: | ELISA:1:2000-1:10000, IHC:1:20-1:200 |
| 反応性: | Human |
| 免疫原: | Recombinant Human N-sulphoglucosamine sulphohydrolase protein (273-502AA) |
| 憲法: | Liquid |
| ストレージバッファ: | PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| 精製方法: | Antigen Affinity Purified |
| 抗体のクローン性: | Polyclonal |
| アイソタイプ: | IgG |
| Conjugate: | Non-conjugated |
 | Immunohistochemistry of paraffin-embedded human kidney tissue using PACO43872 at dilution of 1:100. |
 | Immunohistochemistry of paraffin-embedded human adrenal gland tissue using PACO43872 at dilution of 1:100. |
| バックグラウンド: | SGSH(N-sulphoglucosamine sulphohydrolase) is also named as HSS, sulphamidase and belongs to the sulfatase family. Sulfamidase is synthesized as a 62 kDa precursor protein, which is modified with mannose 6-phosphate (M6P) residues, allowing their recognition by mannose-6-phosphate receptors in the Golgi complex and ensuring transport to the endosomal/lysosomal system. It catalyzes the third step of degradation of glucosaminoglycans and is required for the degradation of heparan sulphate. Defects in SGSH are the cause of mucopolysaccharidosis type 3A (MPS3A), also known as Sanfilippo syndrome A. |
| シノニム: | N-sulphoglucosamine sulphohydrolase (EC 3.10.1.1) (Sulfoglucosamine sulfamidase) (Sulphamidase), SGSH, HSS |
| UniProt Protein Function: | SGSH: Defects in SGSH are the cause of mucopolysaccharidosis type 3A (MPS3A); also known as Sanfilippo syndrome A. MPS3A is a severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. Belongs to the sulfatase family. |
| UniProt Protein Details: | Protein type:Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; EC 3.10.1.1 Chromosomal Location of Human Ortholog: 17q25.3 Cellular Component: lysosomal lumen Molecular Function:N-sulfoglucosamine sulfohydrolase activity; metal ion binding; sulfuric ester hydrolase activity; catalytic activity Biological Process: proteoglycan metabolic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis Disease: Mucopolysaccharidosis, Type Iiia |
| NCBI Summary: | This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P51688 |
| NCBI GenInfo Identifier: | 4506919 |
| NCBI Gene ID: | 6448 |
| NCBI Accession: | NP_000190.1 |
| UniProt Secondary Accession: | P51688,A8K5E2, |
| UniProt Related Accession: | P51688 |
| Molecular Weight: | 56,695 Da |
| NCBI Full Name: | N-sulphoglucosamine sulphohydrolase |
| NCBI Synonym Full Names: | N-sulfoglucosamine sulfohydrolase |
| NCBI Official Symbol: | SGSH |
| NCBI Official Synonym Symbols: | HSS; SFMD; MPS3A |
| NCBI Protein Information: | N-sulphoglucosamine sulphohydrolase; sulphamidase; heparan sulfate sulfatase; sulfoglucosamine sulfamidase; mucopolysaccharidosis type IIIA |
| UniProt Protein Name: | N-sulphoglucosamine sulphohydrolase |
| UniProt Synonym Protein Names: | Sulfoglucosamine sulfamidase; Sulphamidase |
| Protein Family: | N-sulphoglucosamine sulphohydrolase |
| UniProt Gene Name: | SGSH |
| UniProt Entry Name: | SPHM_HUMAN |
