Aliases for PRDM8 Gene
External Ids for PRDM8 Gene
Previous GeneCards Identifiers for PRDM8 Gene
This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for PRDM8 Gene
PRDM8 (PR/SET Domain 8) is a Protein Coding gene. Diseases associated with PRDM8 include Epilepsy, Progressive Myoclonic 10 and Early-Onset Lafora Body Disease. GO annotations related to this gene include chromatin binding and histone methyltransferase activity. An important paralog of this gene is PRDM13.
UniProtKB/Swiss-Prot for PRDM8 Gene
Probable histone methyltransferase, preferentially acting on Lys-9 of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity).