Search results for ALG2

Showing 12 results out of 12

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Protein (4 results from a total of 4)

Identifier: R-HSA-449336
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: ALG2: Q9H553
Identifier: R-HSA-5633236
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: ALG2: Q9H553
Identifier: R-HSA-4549361
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9H553
Identifier: R-HSA-5633223
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9H553

Set (1 results from a total of 1)

Identifier: R-HSA-5633219
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane

Pathway (2 results from a total of 2)

Identifier: R-HSA-4549349
Species: Homo sapiens
Alpha 1,3/1,6 mannosyltransferase ALG2 (ALG2) is a bifunctional mannosyltransferase normally tranfers a mannose moiety to the lipid linked oligosaccharide (LLO aka N glycan precursor) which is required for subsequent N glycosylation of proteins. Defects in ALG2 can cause congenital disorder of glycosylation 1i (ALG2-CDG, previously known as CDG1i; MIM:607906), a multisystem disorder characterised by under glycosylated serum glycoproteins. CDG type 1 diseases result in a wide phenotypic spectrum, from poor neurological development, psychomotor retardation and dysmorphic features to hypotonia, coagulation abnormalities and immunodeficiency (Thiel et al. 2003). Defect in ALG2 can also cause congenital myasthenic syndrome (ALG2-CMS), which is due to a defect in neuromuscular signal transmission (Cossins et al. 2013). The most commonly affected muscles include proximal limb muscles. Mutations causing ALG2-CMS include p.V68G and p.72_75delinsSPR (Cossins et al. 2013).
Identifier: R-HSA-5633231
Species: Homo sapiens
UDP-N-acetylglucosamine transferase subunit ALG14 homolog (ALG14) forms a complex with ALG13 protein and is required for the addition of the second N-acetylglucosamine (GlcNAc) to the lipid linked oligosaccharide (LLO) intermediate (GlcNAcDOLDP) (Gao et al. 2005). Defects in ALG14 can cause congenital myasthenic syndrome (ALG14-CMS), which is due to a defect in neuromuscular signal transmission (Cossins et al. 2013). The most commonly affected muscles include proximal limb muscles. Mutations causing ALG14-CMS include p.P65L and p.R104* (Cossins et al. 2013).

Reaction (4 results from a total of 4)

Identifier: R-HSA-449718
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
A third mannose is added to the N-glycan precursor by ALG2 using its alpha1,6-mannosyltransferase activity. This has been demonstrated experimentally in yeast (O'Reilly MK et al, 2006; Kämpf M et al, 2009); the human reaction is inferred by homology. Defects in ALG2 are the cause for CDG1I (Thiel C et al, 2003).
Identifier: R-HSA-446208
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
A second mannose is added to the N-glycan precursor via an alpha-1,3 linkage. The reaction is catalyzed by the mannosyltransferase ALG2. This is a bifunctional enzyme with both alpha 1,3- and alpha 1,6-mannosyltransferase activities. In humans, only the alpha 1,3 activity used in this reaction has been elucidated (Thiel et al. 2003). Defects in ALG2 are the cause of ALG2-CDG (CDG-1i; MIM:607906) (Thiel et al. 2003).
Identifier: R-HSA-4549368
Species: Homo sapiens
Compartment: integral component of cytoplasmic side of endoplasmic reticulum membrane, cytosol, endoplasmic reticulum membrane
Alpha 1,3/1,6 mannosyltransferase ALG2 (ALG2) is a bifunctional mannosyltransferase which normally transfers a mannose moiety to the lipid linked oligosaccharide (LLO aka N glycan precursor) which is required for subsequent N glycosylation of proteins. Defects in ALG2 can cause congenital disorder of glycosylation 1i (ALG2-CDG, previously known as CDG1i; MIM:607906), a multisystem disorder characterised by under glycosylated serum glycoproteins. Two mutations causing ALG2-CDG have been identified in a patient; a compound heterozygote where one mutation is a 1-bp deletion (G) at 1040 (p.G347Vfs*27) and the other a G-T transversion at 393 (not shown) (Thiel et al. 2003). Defect in ALG2 can also cause congenital myasthenic syndrome (ALG2-CMS), which is due to a defect in neuromuscular signal transmission (Cossins et al., 2013). The most commonly affected muscles include proximal limb muscles. Mutations causing ALG2-CMS include p.V68G and p.72_75delinsSPR (Cossins et al., 2013).
Identifier: R-HSA-5633241
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, cytosol
UDP-N-acetylglucosamine transferase subunit ALG14 homolog (ALG14) forms a complex with ALG13 protein and is required for the addition of the second N-acetylglucosamine (GlcNAc) to the lipid linked oligosaccharide (LLO) intermediate (GlcNAcDOLDP) (Gao et al. 2005). Defects in ALG14 can cause congenital myasthenic syndrome (ALG14-CMS), which is due to a defect in neuromuscular signal transmission (Cossins et al. 2013). The most commonly affected muscles include proximal limb muscles. Mutations causing ALG14-CMS include p.P65L and p.R104* (Cossins et al. 2013).

Interactor (1 results from a total of 1)

Identifier: O75340
Species: Homo sapiens
Primary external reference: UniProt: O75340
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