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Literature summary for 3.2.1.45 extracted from

  • Babajani, G.; Kermode, A.R.
    Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human beta-glucocerebrosidase (2014), Plant Signal. Behav., 9, e28714.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Nicotiana tabacum cultivar Bright Yellow 2 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
L444P the mutation results in its disrupted folding in the endoplasmic reticulum (ER) and impaired post-ER trafficking. The mutation is associated with Gaucher disease Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Homo sapiens 5764
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
beta-glucocerebrosidase
-
Homo sapiens
Gcase
-
Homo sapiens

General Information

General Information Comment Organism
malfunction Gaucher disease is a prevalent lysosomal storage disease characterized by a deficiency in the activity of lysosomal acid beta-glucosidase Homo sapiens