Search results for ALG14

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Protein (3 results from a total of 3)

Identifier: R-HSA-449266
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: ALG14: Q96F25
Identifier: R-HSA-5633218
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: ALG14: Q96F25
Identifier: R-HSA-5633229
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q96F25

Set (1 results from a total of 1)

Identifier: R-HSA-5633238
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane

Pathway (2 results from a total of 2)

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).
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).

Reaction (2 results from a total of 2)

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).
Identifier: R-HSA-446207
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
A second N-acetylglucosamine is added to the N-glycan precursor via a beta-1,4 linkage. This reaction is catalyzed by the ALG13:ALG14 complex, in which ALG13 functions as the catalyst and ALG14 functions as a membrane anchor which recruits ALG13 to the cytosolic face of ER (Gao XD et al, 2005).

Complex (2 results from a total of 2)

Identifier: R-HSA-449326
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Identifier: R-HSA-5633244
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
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