PMM2, Blocking Peptide

Phosphomannomutase 2; PMM 2; PMM2

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

Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of PMM2 blocking peptide 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.

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

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

Chromosomal Location of Human Ortholog: 16p13

Cellular Component: cytosol

Molecular Function: phosphomannomutase activity; protein binding

Biological Process: GDP-mannose biosynthetic process; protein amino acid glycosylation

Disease: Congenital Disorder Of Glycosylation, Type Ia

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