abx031580

antibody from Abbexa

Targeting: MOGS CWH41, DER7, GCS1

No application information provided.

Antibody Data

Product number

abx031580

Provider

Abbexa

Product name

Mannosyl-Oligosaccharide Glucosidase (GCS1) Antibody

Antibody type

Polyclonal

Description

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.

Reactivity

Human

Host

Rabbit

Conjugate

Unconjugated

Isotype

IgG

Vial size

80 µl

Storage

Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles.