Literature summary for 2.4.1.267 extracted from

Westphal, V.; Kjaergaard, S.; Schollen, E.; Martens, K.; Grunewald, S.; Schwartz, M.; Matthijs, G.; Freeze, H.H.
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency (2002), Hum. Mol. Genet., 11, 599-604.

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Protein Variants

Protein Variants	Comment	Organism
F304S	natural variant, common polymorphism reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth, may exacerbate the clinical severity of patients with CDG1A	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y672	-	-

Synonyms

Synonyms	Comment	Organism
ALG6	-	Homo sapiens

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Release 2023.1 (January 2023)