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Literature summary for 2.4.1.132 extracted from

  • Cossins, J.; Belaya, K.; Hicks, D.; Salih, M.A.; Finlayson, S.; Carboni, N.; Liu, W.W.; Maxwell, S.; Zoltowska, K.; Farsani, G.T.; Laval, S.; Seidhamed, M.Z.; Seidhamed, M.Z.; Donnelly, P.; Bentley, D.; McGowan, S.J.; Mueller, J.; Palace, J.; Lochmueller, H.; Beeson, D.
    Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 (2013), Brain, 136, 944-956.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene ALG2 Homo sapiens
gene ALG2, recombinant expression of wild-type and mutat V68G enzymes in HEK-293 cells Mus musculus

Protein Variants

Protein Variants Comment Organism
additional information variant c.214_226delinsAGTCCCCGGC, p.72_75delinsSPR, removes a highly conserved GDWL motif of the glycosyltransferase 4-like domain, and inserts three different amino acids Homo sapiens
V68G naturally occuring mutation, a non-conservative change, a pathogenic mutation causing a rare congenital disorder such as congenital myasthenic syndrome, CMS Homo sapiens
V68G site-directed mutagenesis, the mutant shows reduced expression in muscle Mus musculus

Localization

Localization Comment Organism GeneOntology No. Textmining
cytoplasm
-
 Mus musculus 5737
-
endoplasmic reticulum ALG2 is a type I transmembrane protein with the active site located in the cytosol Homo sapiens 5783
-

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H553 gene ALG2
-
Mus musculus Q9DBE8 gene ALG2
-

Source Tissue

Source Tissue Comment Organism Textmining
muscle distribution of ALG2 in mouse muscle sections by immunohistochemic analysis, Alg2 is enriched at endplate regions of the muscle sections, the region of the alpha-bungarotoxin binding Mus musculus
-

Synonyms

Synonyms Comment Organism
Alg2
-
 Homo sapiens
Alg2
-
 Mus musculus

General Information

General Information Comment Organism
malfunction enzyme mutations are linked to congenital myasthenic syndrome Homo sapiens
metabolism ALG2 is an alpha-1,3-mannosyltransferase that catalyses the second and third mannosylation steps in the N-linked glycosylation pathway Homo sapiens
metabolism ALG2 is an alpha-1,3-mannosyltransferase that catalyses the second and third mannosylation steps in the N-linked glycosylation pathway Mus musculus
physiological function the enzyme transfers D-mannosyl units to endoplasmic reticulum membrane-bound N-acetylglucosaminyl dolichyl-phosphates Homo sapiens
physiological function the enzyme transfers D-mannosyl units to endoplasmic reticulum membrane-bound N-acetylglucosaminyl dolichyl-phosphates Mus musculus