GCS1 Antibody

• Background:

  GCS1 cleaves the distal alpha 1,2-linked glucose residue from the Glc (3) Man (9) GlcNAc (2) oligosaccharide precursor in a highly specific manner. Defects in GCS1 are the cause of type IIb congenital disorder of glycosylation (CDGIIb) . This syndrome is also known as glucosidase I deficiency and is characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms include hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course is progressive and survival is at most a few months.

• NCBI Gene ID:

  7841

• Swiss Prot:

  Q13724

• Accession Number:

  Q13724

• Host:

  Rabbit

• Reactivity:

  Human, Mouse

• Immunogen:

  This GCS1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 796-826 amino acids from the C-terminal region of human GCS1.

• Clonality:

  Polyclonal

• Conjugation:

  Unconjugated

• Type:

  Primary Antibodies

• Field of Research:

  Other

• Purification:

  This antibody is prepared by Saturated Ammonium Sulfate (SAS) precipitation followed by dialysis

• Concentration:

  Batch dependent

• Buffer:

  Supplied in PBS with 0.09% (W/V) sodium azide.

• Modification:

  None

• Shipping Conditions:

  Blue Ice

• Storage Conditions:

  Store at 4˚ C for three months and -20˚ C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

• Calculated Molecular Weight:

  92 kDa

• Fragment:

  Rabbit Ig

• Applications Notes:

  For WB starting dilution is: 1:1000

• Symbol:

  MOGS

• NCBI Official Name:

  Mannosyl-oligosaccharide glucosidase

• NCBI Organism:

  Homo sapiens

• Background Reference 01:

  Volker, C., et al., Glycobiology 12 (8) :473-483 (2002) .

• Background Reference 02:

  De Praeter, C.M., et al., Am. J. Hum. Genet. 66 (6) :1744-1756 (2000) .

• Background Reference 03:

  Kalz-Fuller, B., et al., Eur. J. Biochem. 231 (2) :344-351 (1995) .

• Background Reference 04:

  Kalz-Fueller, B., et al., Eur. J. Biochem. 249, 912-912 (1997) .

• Other Product Names:

  Mannosyl-oligosaccharide glucosidase, Processing A-glucosidase I, MOGS, GCS1

• Tested Applications:

  WB

• Protein ID:

  116242490

• Physical Properties:

  Liquid