Literature summary for 3.2.1.45 extracted from

Church, H.J.; Cooper, A.; Stewart, F.; Thornton, C.M.; Wraith, J.E.
Homozygous loss of a cysteine residue in the glucocerebroside gene results in Gaucher's disease with a hydripic phenotype (2004), Eur. J. Hum. Genet., 12, 975-978.

Protein Variants

Protein Variants	Comment	Organism
C16S	homozygosity for the missense mutation C16S results in the loss of a cysteine residue. The genotype would be predicted to result in virtually zero enzyme activity	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)