Gene Symbol | SETD5 |
Entrez Gene ID | 55209 |
Full Name | SET domain containing 5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal dominant 23, 615761 (3) |