A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
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.
LaMarca
Mary E
ME
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.
Goldstein
Mona
M
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.
Tayebi
Nahid
N
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.
Arcos-Burgos
Mauricio
M
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA.
Martin
Brian M
BM
Laboratory of Neurotoxicology, National Institute of Mental Health, Bethesda, MD, 20892-4405, USA.
Sidransky
Ellen
E
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA. sidranse@irp.nimh.nih.gov.|Section on Molecular Neurogenetics, National Institute of Mental Health, 49 Convent Drive MSC4405, 49/B1EE16, Bethesda, MD, 20892-4405, USA. sidranse@irp.nimh.nih.gov.
D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005006:Ethnicity / Q000235:genetics; D005776:Gaucher Disease / Q000235:genetics*; D006801:Humans; D033681:Mitochondrial Membrane Transport Proteins; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
D017931:DNA Primers; C093550:MTX1 protein, human; D033681:Mitochondrial Membrane Transport Proteins; D011506:Proteins; D004247:DNA