Elevated blood levels of Manganese secondary toSLC30A10gene mutation presents distinctly with dystonia, polycythemia, chronic liver disease and a characteristic high T1 signal in basal ganglia on brain MRI. The primary treatment for this condition is chelation along with iron therapy. We report a ...
Ensembl Gene IDENSG00000196660.12 Ensembl mRNA IDSLC30A10-202 包装清单: 产品编号产品名称包装 QH45121SHuman SLC30A10 qPCR Primer Pair1nmol each —说明书1份 保存条件: -20℃保存。建议复溶后进行适当分装,避免反复冻融。 注意事项: PCR扩增产物的长度可能会因基因转录后存在多种剪接形式而有所差异。
Recent studies found that mutations in the humanSLC30A10gene, which encodes a manganese (Mn) efflux transporter, are associated with hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). However, the relationship between Mn metabolism and HMDPC is poorly understood, and no specific...
Fig. 2: Classification of the top ALT- and AST- associated loci based on annotations. Unless otherwise noted with an asterisk, loci are named by the closest protein-coding gene. “Coding” indicates that one of the variants linked to the lead variant is predicted to have a moderate or high...
2, A–C). RT-PCR confirmed that Slc39a14 single and Slc30a10 single knockouts exhibited loss of SLC39A14 or SLC30A10 mRNA, respectively, whereas Slc30a10/Slc39a14 double knockouts exhibited loss of both gene products (Fig. 2L). As the first experimental step in mice for this study, ...
MESSENGER RNANON-small-cell lung carcinomaGENE expressionRNA regulationERGOCALCIFEROLBackground: Lung cancer has been major cause of cancer related death and day by day Non-small cell lung cancer (NSCLC) cases are increasing globally. Present study explored the link between SLC30A10 mRNA expression ...
To explore the function of SLC30A10 in vitro, the current study used CRISPR/Cas9 gene editing to develop a stable SLC30A10 mutant Hep3B hepatoma cell line and collagenase perfusion in live mice to isolate primary hepatocytes deficient in Slc30a10. We also compared phenotypes of primary vs. ...
A recently discovered mutation in \\\{SLC30A10\\\} identified its gene product as putatively involved in Mn efflux. Patients with the \\\{SLC30A10\\\} mutation display Parkinsonian-like gate disturbances and hypermanganesemia. This review will address Mn transport proteins, the newly discovered...
The candidate gene was sequenced on an ABI sequencer. Functional studies in the manganese-sensitive yeast strain 螖pmr1 were performed using Gateway technology (Invitrogen). Homozygosity mapping identified SLC30A10 as the affected gene, and homozygous sequence changes were found in all affected ...
This gene was subsequently sequenced in eight families, and homozygous sequence changes were identified in all affected individuals. The function of the wild-type protein and the effect of sequence changes were studied in the manganese-sensitive yeast strain 螖pmr1. Expressing human wild-type SLC30...