Description
| 抗体名: | MPI Antibody, HRP conjugated (PACO47551) |
| 抗体コード: | PACO47551 |
| サイズ: | 50ug |
| 宿主種: | Rabbit |
| 申し込み: | ELISA |
| 推奨される希釈: | |
| 反応性: | Human |
| 免疫原: | Recombinant Human Mannose-6-phosphate isomerase protein (213-350AA) |
| 憲法: | Liquid |
| ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 |
| 精製方法: | >95%, Protein G purified |
| 抗体のクローン性: | Polyclonal |
| アイソタイプ: | IgG |
| Conjugate: | HRP |
| バックグラウンド: | Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. |
| シノニム: | Mannose-6-phosphate isomerase (EC 5.3.1.8) (Phosphohexomutase) (Phosphomannose isomerase) (PMI), MPI, PMI1 |
| UniProt Protein Function: | MPI: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. Defects in MPI are the cause of congenital disorder of glycosylation type 1B (CDG1B); also known as carbohydrate-deficient glycoprotein syndrome type Ib (CDGS1B). Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under- glycosylated serum glycoproteins. CDG1B is clinically characterized by protein-losing enteropathy. Belongs to the mannose-6-phosphate isomerase type 1 family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Carbohydrate Metabolism - fructose and mannose; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 5.3.1.8; Isomerase Chromosomal Location of Human Ortholog: 15q24.1 Cellular Component: cytosol Molecular Function:mannose-6-phosphate isomerase activity Biological Process: GDP-mannose biosynthetic process Disease: Congenital Disorder Of Glycosylation, Type Ib |
| NCBI Summary: | Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
| UniProt Code: | P34949 |
| NCBI GenInfo Identifier: | 462567 |
| NCBI Gene ID: | 4351 |
| NCBI Accession: | P34949.2 |
| UniProt Secondary Accession: | P34949,Q96AB0, A8K8K9, |
| UniProt Related Accession: | P34949 |
| Molecular Weight: | 39,834 Da |
| NCBI Full Name: | Mannose-6-phosphate isomerase |
| NCBI Synonym Full Names: | mannose phosphate isomerase |
| NCBI Official Symbol: | MPI |
| NCBI Official Synonym Symbols: | PMI; PMI1; CDG1B |
| NCBI Protein Information: | mannose-6-phosphate isomerase |
| UniProt Protein Name: | Mannose-6-phosphate isomerase |
| UniProt Synonym Protein Names: | Phosphohexomutase; Phosphomannose isomerase; PMI |
| Protein Family: | Mannose-6-phosphate isomerase |
| UniProt Gene Name: | MPI |
| UniProt Entry Name: | MPI_HUMAN |
