Abstract
The gene for glucocerebrosidase (GBA), the enzyme deficient in Gaucher disease, is located in a gene-rich region on 1q21. Metaxin 1(MTX1) is a convergently transcribed gene contiguous to the 3′ end of the GBA pseudogene. A single nucleotide alteration in MTX1, 628T→C, resulting in the amino acid change F202L, was identified in patients with Gaucher disease in association with the common N370S mutation in GBA. The polymorphism was also present on 4.6% of 152 control alleles, but could have functional consequences that have a modifying role in Gaucher disease.
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LaMarca, M.E., Goldstein, M., Tayebi, N. et al. A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease. J Hum Genet 49, 220–222 (2004). https://doi.org/10.1007/s10038-004-0134-7
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DOI: https://doi.org/10.1007/s10038-004-0134-7
