Description
Antibody Name: | ALG6 Antibody (PACO07698) |
Antibody SKU: | PACO07698 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB |
Recommended Dilutions: | |
Species Reactivity: | Human, Mouse, Rat |
Immunogen: | Human ALG6 |
Form: | Liquid |
Storage Buffer: | PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
Purification Method: | Antigen Affinity purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Synonyms: | asparagine-linked glycosylation 6, α-1,3-glucosyltransferase homolog (S. cerevisiae); |
UniProt Protein Function: | ALG6: Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol. Defects in ALG6 are the cause of congenital disorder of glycosylation type 1C (CDG1C); also known as carbohydrate-deficient glycoprotein syndrome type V. CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1C patients have muscular hypotonia, show a delayed statomotor development and are mentally retarded. CDG1C is biochemically characterized by an accumulation of dolichyl pyrophosphate-linked Man(9)GlcNAc(2) in the endoplasmic reticulum. Belongs to the ALG6/ALG8 glucosyltransferase family.Protein type: Membrane protein, integral; Glycan Metabolism - N-glycan biosynthesis; EC 2.4.1.267; Membrane protein, multi-pass; TransferaseChromosomal Location of Human Ortholog: 1p31.3Cellular Component: endoplasmic reticulum membrane; membraneMolecular Function: dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity; dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity; glucosyltransferase activityBiological Process: dolichol-linked oligosaccharide biosynthetic process; oligosaccharide-lipid intermediate assembly; protein amino acid N-linked glycosylationDisease: Congenital Disorder Of Glycosylation, Type Ic |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q9Y672 |
NCBI GenInfo Identifier: | 21263380 |
NCBI Gene ID: | 29929 |
NCBI Accession: | Q9Y672.1 |
UniProt Secondary Accession: | Q9Y672,Q5SXR9, Q9H3I0, B3KMU2 |
UniProt Related Accession: | Q9Y672 |
Molecular Weight: | 58,181 Da |
NCBI Full Name: | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
NCBI Synonym Full Names: | ALG6, alpha-1,3-glucosyltransferase |
NCBI Official Symbol: | ALG6 |
NCBI Official Synonym Symbols: | CDG1C |
NCBI Protein Information: | dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
UniProt Protein Name: | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
UniProt Synonym Protein Names: | Asparagine-linked glycosylation protein 6 homolog; Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase |
Protein Family: | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
UniProt Gene Name: | ALG6 |
UniProt Entry Name: | ALG6_HUMAN |