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Literature summary for 3.2.1.48 extracted from

  • Alfalah, M.; Keiser, M.; Leeb, T.; Zimmer, K.P.; Naim, H.Y.
    Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency (2009), Gastroenterology, 136, 883-892.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
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Homo sapiens

Protein Variants

Protein Variants Comment Organism
C1229Y heterozygous mutation within the sucrose domain, found in patients with congenital sucrase-isomaltase deficiency. Recombinant mutant protein is transported only to the Golgi apparatus. Isomaltase activity is not affected by the mutation Homo sapiens
F1745C heterozygous mutation within the sucrose domain, found in patients with congenital sucrase-isomaltase deficiency. Recombinant mutant protein is misfolded and can not exit the endoplasmic reticulum. Isomaltase activity is not affected by the mutation Homo sapiens
G1073D heterozygous mutation found in patients with congenital sucrase-isomaltase deficiency. Recombinant mutant protein is misfolded and can not exit the endoplasmic reticulum Homo sapiens
V577G heterozygous mutation found in patients with congenital sucrase-isomaltase deficiency. Recombinant mutant protein is misfolded and can not exit the endoplasmic reticulum Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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bifunctional sucrase-isomaltase from patients with congenital sucrase-isomaltase deficiency
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