A novel alteration in metaxin 1, F202L,is associated with N370S in Gaucher disease期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Mary?E.?LaMarca,Mona?Goldstein,Nahid?Tayebi,Mauricio?Arcos-Burgos,Brian?M.?Martin,Ellen?Sidransky mailto:sidranse@irp.nimh.nih.gov" title=" sidranse@irp.nimh.nih.gov" itemprop=" email" data-track=" click" data-track-action=" Email author" data-track-label=" " >Email author

Affiliation:	(1) Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892-4405, USA;(2) Section on Molecular Neurogenetics, National Institute of Mental Health, 49 Convent Drive MSC4405, 49/B1EE16, Bethesda, MD 20892-4405, USA;(3) Laboratory of Neurotoxicology, National Institute of Mental Health, Bethesda, MD 20892-4405, USA

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, 628TC, 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.

Keywords:	Gaucher disease Genotype/phenotype correlation Glucocerebrosidase Haplotype Metaxin Polymorphism
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