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Literature summary for 2.4.1.267 extracted from

  • Drijvers, J.M.; Lefeber, D.J.; de Munnik, S.A.; Pfundt, R.; van de Leeuw, N.; Marcelis, C.; Thiel, C.; Koerner, C.; Wevers, R.A.; Morava, E.
    Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations (2010), Clin. Genet., 77, 507-509.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
A333V analysis of lipid-linked oligosaccharides in cultured fibroblasts indicates accumulation of Man9GlcNAc2-PP-Dol. Sequence analysis of ALG6 reveals a deletion of exon 3 (c.257 + 5G > A) in combination with a missense mutation (c.998C > T, p.Ala333Val). The patient shows skeletal dysplasia with brachytelephalangy Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9Y672
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Synonyms

Synonyms Comment Organism
ALG6
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Homo sapiens