SET domain containing 5 is a protein that in humans is encoded by the SETD5 gene.
[5]
It is a member of the histone lysine methyltransferase family.
Overexpression of SETD5 is associated positively with progression of breast cancer.[6]
Mutations in SETD5 are associated with a rare developmental disorder termed autosomal dominant mental retardation-23 (MRD23, MIM#615761).[7] MRD23 is mainly characterized by variable congenital defects and dysmorphic facies. Clinical features include developmental delay, intellectual disability, chewing abnormalities, hypospadias, and cryptorchidism in males in association with craniofacial dysmorphisms.
^L. Liu, S. Kimball, H. Liu, A. Holowatyj, Z.Q. Yang (2015). Genetic alterations of histone lysine methyltransferases and their significance in breast cancer, Oncotarget, 6, pp. 2466-2482. https://doi.org/10.18632/oncotarget.2967
^Grozeva, D., Carss, K., Spasic-Boskovic, O., Parker, M. J., Archer, H., Firth, H. V., Park, S. M., Canham, N., Holder, S. E., Wilson, M., Hackett, A., Field, M., Floyd, J. A., UK10K Consortium, Hurles, M., & Raymond, F. L. (2014). De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American Journal of Human Genetics, 94, 618–624. https://doi.org/10.1016/j.ajhg.2014.03.006
