Phosphomannomutase 2 (PMM2), ELISA Kit

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

Chromosome: 16; NC_000016.9 (8891670..8943194). Location: 16p13

Store all reagents at 2-8 degree C

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Small volumes of PMM2 elisa kit 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.

MBS9311545 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Phosphomannomutase 2 (PMM2) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing PMM2. The ELISA analytical biochemical technique of the MBS9311545 kit is based on PMM2 antibody-PMM2 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect PMM2 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, PMM2. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

28,082 Da

phosphomannomutase 2

phosphomannomutase 2; phosphomannose isomerase 1

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

Chromosomal Location of Human Ortholog: 16p13

Cellular Component: cell soma; cytosol

Molecular Function: phosphomannomutase activity

Biological Process: cellular protein metabolic process; mannose biosynthetic 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

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