External Ids for SETD5 Gene
Previous GeneCards Identifiers for SETD5 Gene
This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
GeneCards Summary for SETD5 Gene
SETD5 (SET Domain Containing 5) is a Protein Coding gene. Diseases associated with SETD5 include Mental Retardation, Autosomal Dominant 23 and Cornelia De Lange Syndrome. Among its related pathways are PKMTs methylate histone lysines. An important paralog of this gene is KMT2E.
UniProtKB/Swiss-Prot for SETD5 Gene
Probable transcriptional regulator that acts via the formation of large multiprotein complexes that modify and/or remodel the chromatin. Acts as a regulator of histone acetylation during gene transcription.