Glucocerebrosidase

 Less than 4% of normal glucocerebrosidase activity
 Storage of glucocerebroside in lysosomes of cells in the reticuloendothelial system
 Death within 24 hours of birth

Tybulewicz et al., 1992


METHODOLOGY ( FROM T-BASE)

((glucocerebrosidase))

Line Name DNA Construct
1. glucocerebrosidase Construct pPNT-MGC2 was made by subcloning a 2,797-bp Sspl-SalI fragment containing all of exons 5 to 8 and part of exon 9 of the murine glucocerebrosidase ge....
2. glucocerebrosidase Construct pPNT-MGC2 was made by subcloning a 2,797-bp Sspl-SalI fragment containing all of exons 5 to 8 and part of exon 9 of the murine glucocerebrosidase ge....


Database links

OMIM MEDLINE Citations Protein Links Nucleotide Links Cardiff Human Gene Mutation Database Gene Map GDB Coriell Cell Line Repository MEDLINE Neighbors