SETD5 explained

SET domain containing 5 is a protein that in humans is encoded by the SETD5 gene.^[1] It is a member of the histone lysine methyltransferase family.Overexpression of SETD5 is associated positively with progression of breast cancer.^[2] Mutations in SETD5 are associated with a rare developmental disorder termed autosomal dominant mental retardation-23 (MRD23, MIM#615761).^[3] 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.

Notes and References

1. Web site: Entrez Gene: SET domain containing 5. 2013-10-07 .
2. 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
3. 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