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Product Details
17859-1-AP
Applications
Tested Dilution
Publications
Product Specifications
Species Reactivity
Human,
Mouse
Published species
Not Applicable
Host/Isotype
Rabbit
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
GCS1 Fusion Protein Ag12321 (492-837 aa encoded by BC028337)
Conjugate
Form
Liquid
Concentration
0.13 mg/mL
Purification
Antigen affinity chromatography
Storage buffer
PBS, pH 7.3, with 50% glycerol
Contains
0.02% sodium azide
Storage conditions
-20°C
Shipping conditions
Wet ice (domestic); Dry ice (international)
Product Specific Information
Immunogen sequence: DEARARVPP EFLVQRAVHA NPPTLLLPVA HMLEVGDPDD LAFLRKALPR LHAWFSWLHQ SQAGPLPLSY RWRGRDPALP TLLNPKTLPS GLDDYPRASH PSVTERHLDL RCWVALGARV LTRLAEHLGE AEVAAELGPL AASLEAAESL DELHWAPELG VFADFGNHTK AVQLKPRPPQ GLVRVVGRPQ PQLQYVDALG YVSLFPLLLR LLDPTSSRLG PLLDILADSR HLWSPFGLRS LAASSSFYGQ RNSEHDPPYW RGAVWLNVNY LALGALHHYG HLEGPHQARA AKLHGELRAN VVGNVWRQYQ ATGFLWEQYS DRDGRGMGCR PFHGWTSLVL LAMAEDY (492-837 aa encoded by BC028337 )
Target Information
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Bioinformatics
Protein Aliases: Endoplasmic reticulum alpha-glucosidase I; ER glu I; Glucosidase 1; glucosidase I; Glycoprotein-processing glucosidase I; Mannosyl-oligosaccharide glucosidase; Processing A-glucosidase I
Gene Aliases: 1810017N02Rik; AI181835; CDG2B; CWH41; DER7; GCS1; MOGS
UniProt ID: (Human) Q13724, (Mouse) Q80UM7
Entrez Gene ID: (Human) 7841, (Mouse) 57377
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If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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