Description
| Product Name: | Human PMM2 Recombinant Protein |
| Product Code: | RPPB2128 |
| Size: | 20µg |
| Species: | Human |
| Target: | PMM2 |
| Synonyms: | Phosphomannomutase 2, PMM 2, PMM2, CDG1, CDGS, CDG1a. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The PMM2 solution (1 mg/ml) contains 20mM Tris-HCl buffer(pH 8.0), 10% glycerol, 1mM DTT and 0.1M NaCl. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 95.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE KVQEQLGNDV VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI NYCLSYIAKI KLPKKRGTFI EFRNGMLNVS PIGRSCSQEE RIEFYELDKK ENIRQKFVAD LRKEFAGKGL TFSIGGQISF DVFPDGWDKR YCLRHVENDG YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI CELLFS |
Phosphomannomutase 2 (PMM2) is a member of the eukaryotic PMM family. Phosphomannomutase 2 is involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. PMM2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. PMM2 mutations are linked to congenital disorders of glycosylation (CDG)-Ia, an autosomal recessive disorder characterized by central nervous system dysfunction and multiorgan failure.
PMM2 Human Recombinant fused with a 20 amino acid His tag at N-terminus produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 266 amino acids (1-246 a.a.) and having a molecular mass of 30.2kDa. The PMM2 is purified by proprietary chromatographic techniques.
| UniProt Protein Function: | PMM2: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. Defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (CDG1A); also known as carbohydrate-deficient glycoprotein syndrome type Ia (CDGS1A) or Jaeken syndrome. 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. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. Belongs to the eukaryotic PMM family. |
| UniProt Protein Details: | Protein type:Carbohydrate Metabolism - amino sugar and nucleotide sugar; Isomerase; EC 5.4.2.8; Carbohydrate Metabolism - fructose and mannose Chromosomal Location of Human Ortholog: 16p13 Cellular Component: cell soma; cytosol Molecular Function:phosphomannomutase activity Biological Process: mannose biosynthetic process; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid glycosylation; GDP-mannose biosynthetic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification Disease: Congenital Disorder Of Glycosylation, Type Ia |
| NCBI Summary: | The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008] |
| UniProt Code: | O15305 |
| NCBI GenInfo Identifier: | 3024413 |
| NCBI Gene ID: | 5373 |
| NCBI Accession: | O15305.1 |
| UniProt Secondary Accession: | O15305,Q9Z2M7, Q60HD6, Q3SZJ9, |
| UniProt Related Accession: | O15305 |
| Molecular Weight: | 28082 |
| NCBI Full Name: | Phosphomannomutase 2 |
| NCBI Synonym Full Names: | phosphomannomutase 2 |
| NCBI Official Symbol: | PMM2�� |
| NCBI Official Synonym Symbols: | PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2�� |
| NCBI Protein Information: | phosphomannomutase 2 |
| UniProt Protein Name: | Phosphomannomutase 2 |
| Protein Family: | Phosphomannomutase |
| UniProt Gene Name: | PMM2�� |
| UniProt Entry Name: | PMM2_HUMAN |
