Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1985 Oct;82(20):7101-5.
doi: 10.1073/pnas.82.20.7101.

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease

E I Ginns, P V Choudary, S Tsuji, B Martin, B Stubblefield, J Sawyer, J Hozier, J A Barranger

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease

E I Ginns et al. Proc Natl Acad Sci U S A. 1985 Oct.

Abstract

Analysis of immunologic cross-reacting material in Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; beta-D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1.45) to chromosome 1 bands q21-q32. In situ hybridization of a radiolabeled human glucocerebrosidase cDNA to high resolution human chromosomes demonstrated that a single locus encoding glucocerebrosidase is on 1q21, adjacent to a region of chromosome 1 (1qh) abundant in structural heteromorphisms. We also have identified a hydrophobic leader polypeptide encoded by this locus, permitting a more complete description of the biosynthesis of the enzyme. These results suggest that the type-specific protein polymorphisms in Gaucher disease result from mutations at this single locus, whose segregation might be followed by linkage to visible chromosomal heteromorphisms.

PubMed Disclaimer

References

    1. Cytogenet Cell Genet. 1982;33(4):340-4 - PubMed
    1. Proc Natl Acad Sci U S A. 1982 Sep;79(18):5607-10 - PubMed
    1. Clin Chim Acta. 1983 Jul 15;131(3):283-7 - PubMed
    1. Hum Genet. 1983;64(3):227-31 - PubMed
    1. Hum Genet. 1983;65(2):112-6 - PubMed

Publication types