Sequence of the Citrin immunodeficiency disease virulence gene SLC25A13 high frequency mutation screening primers are displayed as SEQ ID NO.1-8. The Citrin immunodeficiency disease virulence gene SLC25A13 high frequency mutation screening reagent box comprises the primers, dNTPs, deoxyribonucleic acid ...
未明原因婴儿肝内胆汁淤积症中SLC25A13基因变异特征
Mutations in SLC25A13 gene cause adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). The complete deletion or cleaved SLA25A13 proteins have been reported in patients with SLC25A13 mutation. 实验方案 Product Specific Protocols WB protocol for SLC25A13 antibody...
Functional Coding Variants in SLC6A15, a Possible Risk Gene for Major Depression 携带SLC基因的Birc5-siRNA质粒载体的构建及鉴定* 13基因突变与DNA损伤修复6;ppt 儿童基因突变研究-洞察研究 胱氨酸尿症相关基因 SLC3A1 与 SLC7A9 突变与药物研究进展2024(全文) SLC25A15调控肝癌的增殖、侵袭和迁移及分子机制...
CHEN Junlin, LI Haiqing, LIU Yanlin, LI Bingxiao, ZHANG Zhanhui [Abstract]Objective: To identify the aberrant splicing transcripts caused by the intron variation IVS6-11A>G (c.615-11A>G) of human SLC25A13 gene u...
Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we...
Gene Accession: Purity: Expression system: Tags: Background: solute carrier family 25 (aspartate/glutamate carrier), member 13 CTLN2; CITRIN; ARALAR2 Q9UJS0 BC006566 >85%, as determined by Coomassie blue stained SDS-PAGE Escherichia coli His tag C-Terminus, GST tag N-Terminus This gene ...
DescriptionRabbit anti-SLC25A13 polyclonal antibody. This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate an...
Deficiency of citrin, liver-type mitochondrial aspartate-glutamate carrier, is an autosomal recessive disorder caused by mutations of the SLC25A13 gene on chromosome 7q21.3 and has two phenotypes: neonatal intrahepatic cholestatic hepatitis (NICCD) and adult-onset type II citrullinemia (CTLN2). So...
In the present study, we have identified two novel mutations, 1800ins1 and R605X, in SLC25A13 mRNA and the SLC25A13 gene. Diagnostic analysis for the seven mutations in 103 CTLN2 patients diagnosed by biochemical and enzymatic studies has revealed that 102 patients had one or two of the...