Literature summary for 2.4.1.131 extracted from

Rind, N.; Schmeiser, V.; Thiel, C.; Absmanner, B.; L�bbehusen, J.; Hocks, J.; Apeshiotis, N.; Wilichowski, E.; Lehle, L.; K�rner, C.
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip (2010), Hum. Mol. Genet., 19, 1413-1424.

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Cloned(Commentary)

Cloned (Comment)	Organism
retroviral expression of human wild-type and mutated ALG11 cDNA in patient-derived fibroblasts as well as using a yeast alg11 deletion strain as a heterologous expression system for hALG11 variants	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
L85A	no effect on Alg11 mannosyltransferase activity	Homo sapiens
L86P	mutant enzyme does not complement the growth deffect of the mutant strain DELTAalgg3 (Saccharomyces cerevisiae)	Homo sapiens
L86S	mutant enzyme slightly complements the growth deffect of the mutant strain DELTAalgg3 (Saccharomyces cerevisiae)	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q2TAA5	-	-

Synonyms

Synonyms	Comment	Organism
GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase	-	Homo sapiens
hALG11	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	a patient with muscular hypotonia, convulsions, developmental retardation, dysmorphic signs and death in infancy, a deficiency of GDP-Man:Man3GlcNAc2-PP-dolichol mannosyltransferase, the human ortholog of Alg11 from yeast, is identified as the molecular cause. The enzymatic malfunction leads to impairment in the elongation of lipid-linked oligosaccharides at the outer leaflet of the endoplasmic reticulum, resulting in CDG-Ip, a congenital disorders of glycosylation. Mutation p.L86S in the endoplasmic reticulum mannosyltransferase hALG11 leads to accumulation of Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol in the index CDG-Ip patient	Homo sapiens

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Release 2023.1 (January 2023)