PMM2, Polyclonal Antibody

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

Polyclonal

Rabbit

Affinity purified

PBS, pH 7.4 with 0.02% Sodium Azide

1.0 mg/ml (lot specific)

This product is stable for several weeks at 4 degree C as an undiluted liquid. Dilute only prior to immediate use. For extended storage, aliquot contents and freeze at -20 degree C or below. Avoid cycles of freezing and thawing. Expiration date is one (1) year from date of receipt.

Small volumes of anti-PMM2 antibody 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.

Total protein Ab

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

ELISA: 1:20000-1:80000
WB: 1:1000-1:2000
IHC: 1:100-1:500

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

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

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