Mouse anti-Human PMM2 Monoclonal Antibody | anti-PMM2 antibody

PMM2 (Phosphomannomutase 2, PMM 2) (Biotin)

Cat. Num. AAA6143630

• Gene Names: PMM2; PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2
• Reactivity: Human
• Applications: ELISA, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: PMM2; Monoclonal Antibody; PMM2 (Phosphomannomutase 2; PMM 2) (Biotin); anti-PMM2 antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG2b,k
• Clone Number: 2E9
• Specificity: Recognizes human PMM2.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.

• Applicable Applications for anti-PMM2 antibody: ELISA (EIA), Western Blot (WB)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Partial recombinant corresponding to aa47-112 from human PMM2 (NP_000294) with GST tag. MW of the GST tag alone is 26kD.
• Immunogen Sequence: SDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIK
• Conjugate: Biotin
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot detection against Immunogen (32.89kD).)

Western Blot (WB)

(Western Blot analysis of PMM2 expression in transfected 293T cell line by PMM2 monoclonal antibody. Lane 1: PMM2 transfected lysate (28.1kD). Lane 2: Non-transfected lysate.)

Testing Data

(Detection limit for recombinant GST tagged PMM2 is 0.1ng/ml as a capture antibody.)

Related Product Information for anti-PMM2 antibody

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

Product Categories/Family for anti-PMM2 antibody

Antibodies; Enzymes

NCBI and Uniprot Product Information

• NCBI GI #: 4557839
• NCBI GeneID: 5373
• NCBI Accession #: NP_000294
• NCBI GenBank Nucleotide #: NM_000303
• UniProt Accession #: O15305; A8K672; B7Z6R0; D3DUF3
• Molecular Weight: 13,428 Da
• NCBI Official Full Name: phosphomannomutase 2
• NCBI Official Synonym Full Names: phosphomannomutase 2
• NCBI Official Symbol: PMM2
• NCBI Official Synonym Symbols: PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2
• NCBI Protein Information: phosphomannomutase 2
• UniProt Protein Name: Phosphomannomutase 2
• Protein Family: Phosphomannomutase
• UniProt Gene Name: PMM2
• UniProt Synonym Gene Names: PMM 2
• UniProt Entry Name: PMM2_HUMAN

NCBI Description

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]

Uniprot Description

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; Isomerase; EC 5.4.2.8; Carbohydrate Metabolism - fructose and mannose

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