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. 1985 Nov;82(21):7289–7293. doi: 10.1073/pnas.82.21.7289

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.

J Sorge, C West, B Westwood, E Beutler
PMCID: PMC390835  PMID: 3864160

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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