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.
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D003001:Cloning, Molecular; D003360:Cosmids; D004247:DNA / Q000235:genetics; D005959:Glucosidases / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D011994:Recombinant Proteins / Q000235:genetics*
D011994:Recombinant Proteins; D004247:DNA; D005959:Glucosidases; D005962:Glucosylceramidase