MDM2 encodes the murine double minute 2 protein, an E3 ubiquitin ligase and a principal regulator of the p53 tumor suppressor, to which it is linked in a negative feedback loop. P53 plays an [...]
The so-called KEOPS protein complex has been implicated in a range of functions. Among others, it regulates a chemical modification of tRNA which ensures accurate translation, and it also acts in [...]
The KCNQ gene family encodes potassium channel proteins, which are essential for the transport of potassium ions across the cell membrane. It comprises five genes, and mutations in four of these [...]
Mutations of the CD55 gene have been identified by an international group of scientists as the cause of a new autosomal recessively inherited syndrome consisting of early-onset protein-losing [...]
YY1 encodes the yin and yang 1 protein, a well-known zinc-finger transcription factor, whose name reflects its dual function: it has both activating and repressing effects on the transcription of [...]
Delayed sleep phase disorder (DSPD) is a common sleep disorder in which a person’s sleep/wake cycle is shifted beyond the usual or typically considered normal rhythm. Affected people are “night [...]
Dowling-Degos disease is a skin pigmentation disorder characterized by small dark brown, partly hyperkeratotic spots and papules located in certain areas of the body. It is a genetically very [...]
The two halves of the human brain are connected by several so called commissures. These crossing tracts link structures of the right and the left cerebral hemisphere, mediating coordination and [...]
SMCHD1 encodes the structural maintenance of chromosomes flexible hinge domain containing 1 protein, a member of the large SMC protein family. It is involved in epigenetic regulation of various [...]
KMT2B belongs to the KMT2 gene family and encodes the lysine-specific histone methyltransferase 2B (KMT2B). KMT2B acts in a multiprotein complex which effects gene regulation by epigenetic [...]
