Tet3 and its respective protein TET 3 are members of the
TET (ten-eleven-translocation) family of genes and proteins that play a role in DNA demethylation. DNA demethylation is the removal of suppressive methyl groups from the cytosine of DNA. While there is not much work regarding the role of
Tet3 in humans, studies have been done on model organisms such as mice, frogs, and rats. An experiment done by several researchers on mice showed that
Tet3 is most active in NPC or Neuronal Progenitor Cells. A recent study done in vivo in rats has shown that the TET3 protein is important in recovery after a stroke. The study shows that TET3 as well as its product, 5-hydroxymethylcytosine (5hmC), are expressed more after focal ischemia in order to demethylate and turn on genes associated with DNA repair in neurons. These mutations of
Tet3 can greatly affect the TET3 protein and lead to a class of neurodevelopmental disorders in humans known as
Beck–Fahrner syndrome. Individuals with these mutations experience phenotypes such as developmental delay and growth abnormalities as well as features found in other neurodevelopmental disorders such as
Sotos Syndrome and
Autism Spectrum Disorder. Little is known about the exact mutations on
Tet3 that cause Beck–Fahrner syndrome and their inheritance patterns. However, the mutations seem to follow a
Mendelian pattern of inheritance. In a recent study of affected individuals and their families, some were found to have autosomal-dominant patterns of inheritance while others were found to have autosomal-recessive patterns of inheritance. Regardless of the inheritance pattern, all mutations in this gene were shown to be caused by either a missense variant in the region of the gene that codes for the catalytic domain of TET3 or a frameshift or nonsense variant in the same region. The region in which this mutation occurs is highly conserved among species, especially mice and humans, which is why work done on model organisms may be useful in bettering our understanding of
Tet3's function in humans. In conclusion, the
Tet3 gene is important in a variety of organisms including humans, rats, and mice. It functions mostly during the formation of a zygote, particularly in neurons. There it helps neurons mature and develop as well as aids them in repair. ==Clinical==