Gene Symbol | METTL23 |
Entrez Gene ID | 124512 |
Full Name | methyltransferase like 23 |
Synonyms | C17orf95,MRT44 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 44, 615942 (3) |