A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

作者信息

LaMarca Mary E, Goldstein Mona, Tayebi Nahid, Arcos-Burgos Mauricio, Martin Brian M, Sidransky Ellen

机构信息

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA.

Section on Molecular Neurogenetics, National Institute of Mental Health, 49 Convent Drive MSC4405, 49/B1EE16, Bethesda, MD, 20892-4405, USA.

出版信息

J Hum Genet. 2004;49(4):220-222. doi: 10.1007/s10038-004-0134-7. Epub 2004 Mar 13.

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.