Cell Biology Antibodies 9
Anti-PMM2 Antibody (CAB4026)
- SKU:
- CAB4026
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-PMM2 Antibody |
Antibody SKU: | CAB4026 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC IF |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-246 of human PMM2 (NP_000294.1). |
Application: | WB IHC IF |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | HepG2, A-549, HeLa, 293T, NIH/3T3, Mouse liver, Mouse intestine, Rat brain |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-246 of human PMM2 (NP_000294.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MAAP GPAL CLFD VDGT LTAP RQKI TKEM DDFL QKLR QKIK IGVV GGSD FEKV QEQL GNDV VEKY DYVF PENG LVAY KDGK LLCR QNIQ SHLG EALI QDLI NYCL SYIA KIKL PKKR GTFI EFRN GMLN VSPI GRSC SQEE RIEF YELD KKEN IRQK FVAD LRKE FAGK GLTF SIGG QISF DVFP DGWD KRYC LRHV ENDG YKTI YFFG DKTM PGGN DHEI FTDP RTMG YSVT APED TRRI CELL FS |
Gene ID: | 5373 |
Uniprot: | O15305 |
Cellular Location: | Cytoplasm |
Calculated MW: | 13kDa/28kDa |
Observed MW: | 28kDa |
Synonyms: | PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2 |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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 |
NCBI Summary: | 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 Code: | O15305 |
NCBI GenInfo Identifier: | 3024413 |
NCBI Gene ID: | 5373 |
NCBI Accession: | O15305.1 |
UniProt Secondary Accession: | O15305,Q9Z2M7, Q60HD6, Q3SZJ9, |
UniProt Related Accession: | O15305 |
Molecular Weight: | 28082 |
NCBI Full Name: | Phosphomannomutase 2 |
NCBI 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 Entry Name: | PMM2_HUMAN |
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