Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

摘要

Human SLC25A13 gene encodes citrin, the liver-type aspartate/glutamate carrier isoform 2 (AGC2) (Kobayashi et al. 1999; Palmieri et al. 2013, 2014). In hepatocytes, citrin functions to export mitochondrial aspartate from the mitochondrial matrix in exchange for cytosolic glutamate and H+, playing important roles in the urea cycle and malate-aspartate shuttle (Begum et al. 2002; Saheki et al. 2004, 2005; Palmieri et al. 2013, 2014). Biallelic SLC25A13 mutations result in citrin deficiency (CD) (Kobayashi et al. 1999), and currently three age-dependent clinical phenotypes of CD have been described, i.e.