Thermo Fisher Scientific GCS1 Polyclonal Antibody

Applications

Product Specifications

Product Specific Information

Immunogen sequence:
RWVLAWYRAR RAVTLHSAPP VLPADSSSPA VAPDLFWGTY RPHVYFGMKT RSPKPLLTGL MWAQQGTTPG TPKLRHTCEQ GDGVGPYGWE FHDGLSFGRQ HIQDGALRLT TEFVKRPGGQ HGGDWSWRVT VEPQDSGTSA LPLVSLFFYV VTDGKEVLLP EVGAKGQLKF ISGHTSELGD FRFTLLPPTS PGDTAPKYGS YNVFWTSNPG LPLLTEMVKS RLNSWFQHRP PGAPPERYLG LPGSLKWEDR GPSGQGQGQF L

Positive Samples: U-87MG, LO2, BxPC-3, OVCAR-3, Mouse Brain, Mouse Liver, Mouse Pancreas, Mouse Testis, Rat Liver
Cellular Location: Endoplasmic reticulum membrane, Single-pass type II membrane protein

Target Information

GCS1 cleaves the distal α1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner.
Defects in GCS1 cause type IIb congenital disorder of glycosylation (CDGIIb), also known as glucosidase I deficiency.
This syndrome is characterized by generalized hypotonia, hypomotility, dysmorphic features (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, with survival typically limited to a few months.

⚠ WARNING: This product can expose you to chemicals including mercury, which is known to the State of California to cause birth defects or other reproductive harm.
For more information, visit www.P65Warnings.ca.gov.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.