Entry |
|
Name |
Glucosylceramide synthesis in GBA deficiency
|
Definition |
Ceramide -- UGCG -> GlcCer // GBA* |
Expanded |
C00195 -- 7357 -> C01190 // 2629v1 |
Class |
|
Type |
Variant
|
Disease |
|
Gene |
7357 | UGCG; UDP-glucose ceramide glucosyltransferase |
2629 | GBA; glucosylceramidase beta |
|
Variant |
|
Metabolite |
|
Reference |
|
Authors |
Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E |
Title |
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. |
Journal |
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LinkDB |
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