PMM2, Recombinant Protein

Phosphomannomutase 2; PMM 2

For Research Use Only. Not for use in diagnostic procedures.

E Coli

Greater than 95% as determined by reducing SDS-PAGE.

Supplied as a 0.2 muM filtered solution of 20mM Tris-HCl, 150mM NaCl, pH 8.0.

Lyophilized protein should be stored at -20 degree C, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 2-8 degree C for 2-7 days. Aliquots of reconstituted samples are stable at -20 degree C for 3 months.

Small volumes of PMM2 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Recombinant Human PMM2 Protein is produced by our E.coli expression system and the target gene encoding Met1-Ser246 is expressed with a 6His tag at the C-terminus.

ELISA (EIA),Western Blot (WB), SDS-PAGE, Mass Spectrometry (MS)

13,428 Da

phosphomannomutase 2

phosphomannomutase 2

Phosphomannomutase 2

PMM 2  [Similar Products]

PMM2_HUMAN

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]

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.

Protein type: Carbohydrate Metabolism - amino sugar and nucleotide sugar; Carbohydrate Metabolism - fructose and mannose; EC 5.4.2.8; Isomerase

Chromosomal Location of Human Ortholog: 16p13

Cellular Component: cytosol

Molecular Function: phosphomannomutase activity; protein binding

Biological Process: GDP-mannose biosynthetic process; mannose metabolic process; protein amino acid glycosylation; protein amino acid N-linked glycosylation; protein targeting to ER

Disease: Congenital Disorder Of Glycosylation, Type Ia

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