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Literature summary for 3.2.1.45 extracted from

  • Emre, S.; Guerakan, F.; Yuece, A.; Rolf, A.; Scott, R.; Ozen, H.
    Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene (2008), Eur. J. Med. Genet., 51, 315-321.
    View publication on PubMed

Application

Application Comment Organism
medicine mutations N370S and L444P are the most prevalent among patients with Gaucher disease. Two missense changes S356F, L296V are associated with the severe phenotype of type 1 Gaucher disease. Mutation 303e305delCAC was identified in a homozygous state in one patient type 1 or type 3 Homo sapiens

Protein Variants

Protein Variants Comment Organism
303-305delCAC mutation identified in a homozygous state in one patient of Gaucher disease type 1 or 3 Homo sapiens
L296V mutation associated with the severe phenotype of type 1 Gaucher disease Homo sapiens
L444P mutation responsible for Gaucher disease in 42% of patients tested Homo sapiens
N370S mutation responsible for Gaucher disease in 30% of patients tested Homo sapiens
S356F mutation associated with the severe phenotype of type 1 Gaucher disease Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Turkish patients with Gaucher disease
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