Human asparagine-linked glycosylation 12, alpha-1, 6-mannosyltransferase homolog (S. cerevisiae) ELISA Kit | ALG12 elisa kit
Human Dol-P-Man:Man, ALG12 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
Uniprot Description
ALG12: Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP- Man(7)GlcNAc(2)) required for protein glycosylation. Defects in ALG12 are the cause of congenital disorder of glycosylation type 1G (CDG1G). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the glycosyltransferase 22 family.
Protein type: Membrane protein, integral; EC 2.4.1.260; Membrane protein, multi-pass; Transferase; Glycan Metabolism - N-glycan biosynthesis
Chromosomal Location of Human Ortholog: 22q13.33
Cellular Component: endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to membrane
Molecular Function: mannosyltransferase activity; alpha-1,6-mannosyltransferase activity
Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein folding; protein amino acid N-linked glycosylation; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification
Disease: Congenital Disorder Of Glycosylation, Type Ig
Research Articles on ALG12
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Product Notes
The Human ALG12 alg12 (Catalog #AAA9325216) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9325216 ELISA Kit recognizes Human ALG12. It is sometimes possible for the material contained within the vial of "asparagine-linked glycosylation 12, alpha-1, 6-mannosyltransferase homolog (S. cerevisiae), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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