Recombinant Human Phosphomannomutase 2, His-tagged

• Cat.No.: PMM2-2822H
• Product Overview: Recombinant humanPMM2 protein,fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques. MW = 30.2 kDa (266aa), confirmed by MALDI-TOF.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Description: PMM2, also known asPhosphomannomutase 2, belongs to the eukaryotic PMM family. PMM2 is involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. It catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mutations in PMM2 are associated with Congenital disorders of glycosylation (CDG)-Ia, an autosomal recessive disorder characterized by central nervous system dysfunction and multiorgan failure.
• Sequences Of Amino Acids: 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
• Purity: > 95% by SDS – PAGE.
• Form: Liquid. In 20mM Tris-HCl buffer (pH 8.0) containing 10% glycerol 1mM DTT, 0.1M NaCl.
• Concentration: 1 mg/ml (determined by Bradford assay).
• Storage: Can be stored at +4°C short term (1-2 weeks). For long term storage, aliquot and store at -20°C or -70°C. Avoid repeated freezing and thawing cycles.

Gene Information

• Gene Name: PMM2 phosphomannomutase 2 [ Homo sapiens ]
• Synonyms: PMM2; phosphomannomutase 2; CDG1; CDGS; CDG1a; PMM 2; EC 5.4.2.8; CDG1A
• Gene ID: 5373
• mRNA Refseq: NM_000303
• Protein Refseq: NP_000294
• MIM: 601785
• UniProt ID: O15305
• Chromosome Location: 16p13
• Pathway: Amino sugar and nucleotide sugar metabolism; Fructose and mannose metabolism; Metabolic pathways
• Function: isomerase activity; phosphomannomutase activity