Literature summary for 2.4.1.265 extracted from

Schollen, E.; Frank, C.G.; Keldermans, L.; Reyntjens, R.; Grubenmann, C.E.; Clayton, P.T.; Winchester, B.G.; Smeitink, J.; Wevers, R.A.; Aebi, M.; Hennet, T.; Matthijs, G.
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) (2004), J. Med. Genet., 41, 550-556.

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Cloned(Commentary)

Cloned (Comment)	Organism
-	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G275D	low residual activity, hypoglycosylation pattern	Homo sapiens
T47P	low residual activity, hypoglycosylation pattern	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9BVK2	-	-

Synonyms

Synonyms	Comment	Organism
ALG8	-	Homo sapiens
dolichyl-P-Glc:Glc1 Man9GlcNAc2-PP-dolichyl alpha1,3-glucosyltransferase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	congenital disorder of glycosylation type Ih (CDG-Ih) is caused by a defect in the dolichyl-P-Glc:Glc1 Man9GlcNAc2-PP-dolichyl alpha1,3-glucosyltransferase (ALG8). Accumulation of the lipid-linked oligosaccharyl intermediates Dol-PP-GlcNAc2Man9 and Dol-PP-GlcNAc2Man9Glc1 in patients' fibroblasts. Mutation analysis of the ALG8 gene identifies in both families a compound heterozygosity for a splice site mutation and a missense mutation (family 1: c.96-2A>G and p.T47P; family 2: c.672+4A>G and p.G275D). The functional effect of the ALG8 splice mutations is analysed on mRNA and the effect of the missense mutations is assayed in ALG8 deficient yeast strains. The molecular and clinical features of three patients from two families with an ALG8 deficiency are described. All three patients show severe, life-threatening multi organ failure and die within their first months of life	Homo sapiens

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Release 2023.1 (January 2023)