SETD5 gene

SET domain containing 5

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Mental retardation, autosomal dominant 23

From UniProt:

Mental retardation, autosomal dominant 23 (MRD23): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features. [MIM:615761]

Cytogenetic Location: 3p25.3, which is the short (p) arm of chromosome 3 at position 25.3

Molecular Location: base pairs 9,397,700 to 9,478,154 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p25.3, which is the short (p) arm of chromosome 3 at position 25.3