Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.

Mutations in the human glucocerebrosidase gene cause Gaucher disease. A cDNA clone containing the entire human glucocerebrosidase coding region from normal cells has been isolated using lambda gt11 expression libraries. The complete nucleotide sequence, a restriction map, and a hydropathy profile are presented. Hybridization to chromosome-specific DNA localizes the human glucocerebrosidase gene to chromosome 1. The likely precursor protein is 515 amino acids long. The NH2-terminal 19 amino acids constitute a leader sequence that is cleaved from the mature protein. The predicted molecular weight of the mature protein is 55,384, without glycosylation or carboxyl-terminal processing.