Glucocerebrosidase (Gaucher disease).
Gaucher disease is the most common glycolipid storage disorder, characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. The most prevalent form of Gaucher disease is designated type I (MIM 230800). Patients with type I disease may have hepatomegaly, splenomegaly, bone lesions, and less commonly, lung disease, but are free of neurological involvement. Types II (MIM 230900) and III (MIM 2310000), the acute infantile and juvenile forms, respectively, of Gaucher disease, are characterized by the fact that the central nervous system is affected.
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA.
E
E
Beutler
T
T
Gelbart
D017398:Alternative Splicing; D001842:Bone and Bones / Q000473:pathology; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D016368:Frameshift Mutation; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D005962:Glucosylceramidase / Q000235:genetics*; D006239:Haplotypes; D006529:Hepatomegaly; D006801:Humans; D007585:Jews / Q000235:genetics; D008171:Lung Diseases; D009154:Mutation; D017354:Point Mutation; D017384:Sequence Deletion; D013163:Splenomegaly
D005962:Glucosylceramidase