Biology:SET domain containing protein 1A
SET domain containing protein 1A (SETD1A) is a protein that serves as a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at the lys4 residue (K4). SETD1A is highly homologous with SETDB1 but has a distinct subnuclear distribution.[1]
Clinical significance
Mutations of the SETD1A gene can cause neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) discovered in 2021,[2] and early-onset epilepsy with or without developmental delay, first described in 2019.[3]
According to a review published in 2018, mutations of the SETD1A gene may increase the risk of schizophrenia, based on studies available up to that date.[4]
History
The protein was first described in human in 2003 by Wysocka et al.
See also
- SETDB1 - highly homologous to SETD1A
- SET domain
References
- ↑ "SET1/MLL family of proteins: functions beyond histone methylation". Epigenetics 16 (5): 469–487. May 2021. doi:10.1080/15592294.2020.1809873. PMID 32795105.
- ↑ "Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome". Molecular Psychiatry 26 (6): 2013–2024. June 2021. doi:10.1038/s41380-020-0725-5. PMID 32346159. https://www.zora.uzh.ch/id/eprint/192403/1/SETD1A_patients_paper_pre_print_Mol_Psych.pdf.
- ↑ "De Novo and Inherited SETD1A Variants in Early-onset Epilepsy". Neuroscience Bulletin 35 (6): 1045–1057. December 2019. doi:10.1007/s12264-019-00400-w. PMID 31197650.
- ↑ "Mini-review: Update on the genetics of schizophrenia". Annals of Human Genetics 82 (5): 239–243. September 2018. doi:10.1111/ahg.12259. PMID 29923609. https://discovery.ucl.ac.uk/id/eprint/10064654/.
 |  |
