Literature summary for 2.4.1.267 extracted from

Westphal, V.; Schottst�dt, C.; Marquardt, T.; Freeze, H.H.
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic (2000), Mol. Genet. Metab., 70, 219-223.

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Cloned(Commentary)

Cloned (Comment)	Organism
expressed in the ALG6 deficient yeast strain	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
delI299/F304S	patient with three mutations in the hALG6 gene. The maternal allele has an intronic G -> A mutation resulting in skipping of exon3 (IVS3 + 5G > A). This produces a nonfunctional enzyme as shown by its inability to restore normal glycosylation in a Saccharomyces cerevisiae strain lacking a functional ALG6. The paternal allele has two mutations. One is a deletion of three bases (895897delATA) leading to an in-frame deletion of isoleucine 299 (delI299) located in a transmembrane domain. The second mutation on the same allele 911T > C causes a F304S change. When expressed in the ALG6 deficient yeast strain, this allele restores glycosylation but the mRNA is unstable or inefficiently transcribed, contributing to the impaired glycosylation in the patient	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y672	-	-

Synonyms

Synonyms	Comment	Organism
hALG6	-	Homo sapiens

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Release 2023.1 (January 2023)