TET1 Gene

The TET1 gene (TET1 is also known as Tet Methylcytosine Dioxygenase 1) is a protein-coding gene located on chromosome 10q21.3. The protein encoded by this gene is a demethylase that belongs to the ten-eleven translocation (TET) family. Members of the TET protein family play a role in the DNA methylation process and gene activation.

DNA methylation is an epigenetic mechanism important for the control of gene expression.

Diseases associated with TET1 include:

• Miles-Carpenter syndrome

and

• Rett syndrome.

Related signaling pathways include the mesodermal commitment pathway and cytosine methylation. An important paralog of this gene is TET2.

The protein encoded by TET1- is a dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome that plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, it plays a more general role in chromatin regulation.TET1 plays an important role in tumorigenicity of glioblastoma cells.

Miles-Carpenter syndrome (also known as Miles-carpenter x-linked mental retardation syndrome), is related to Wieacker-Wolff syndrome and Hirschsprung disease 1.

Rett syndrome is an X-linked dominant inherited encephalopathy. In male embryos, the mutations almost always result in intrauterine fetal death.