The protein encoded by RRAS2 is a ubiquitously expressed small GTPase with an important function as a signal transducer in the cell. Disturbances in signaling cascades controlling the cell’s [...]
The melanocortin-4 receptor (MC4R) belongs to the family of G protein-coupled receptors, which play essential roles in signal processing and transduction in our cells. MC4R is expressed primarily [...]
Cell-cell adhesion is a fundamental prerequisite for the development of multicellular architecture and is facilitated by specific adhesion molecules. Cadherins, divided into several subfamilies, [...]
The nuclear envelope consists of a double-layered membrane and separates the nucleoplasm from the cytoplasm of the cell. Numerous proteins are anchored in the inner nuclear membrane, interacting [...]
Delta(4)-dihydroceramide desaturase, the protein encoded by DEGS1, acts as a catalyzing enzyme in the synthesis of ceramide, a basic building block of sphingolipids. Sphingolipids are essential [...]
Hallermann-Streiff syndrome is a rare congenital syndrome that is well-known but whose genetic cause has so far not been unraveled – although researchers have intensively investigated the [...]
Mutations of the LZTR1 gene are involved in the development of tumors and both, autosomal dominant and autosomal recessive variants have been described to cause Noonan syndrome. Yet, how exactly [...]
DNA methylation is an essential epigenetic mechanism in the regulation of gene expression. Specific enzymes, DNA methyltransferases, add methyl groups to certain nucleotides of the DNA and may [...]
DNA-dependent RNA polymerases catalyze the synthesis of different types of RNA during transcription in eukaryotic cells. The protein encoded by POLR3A forms the largest subunit of the RNA [...]
An international collaboration of scientists including researchers of the Institute of Human Genetics Göttingen have determined specific mutations in POLR3A as the genetic cause of [...]
