Entity Details

Primary name METTL23
Entity type gene
Source Source Link

Details

PrimaryID124512
RefseqGeneNG_041790
SymbolMETTL23
Namemethyltransferase like 23
Chromosome17
Location17q25.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMET23_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0008134 transcription factor binding
GO:0008168 methyltransferase activity
GO:0016021 integral component of membrane
GO:0031072 heat shock protein binding
GO:0032259 methylation
GO:0032991 protein-containing complex
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0050890 cognition

Diseases

Show/Hide Table
Disease IDSourceNameDescription
615942 OMIMMental retardation, autosomal recessive 44 (MRT44)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.