Gene: METTL23

Alternate names for this Gene: C17orf95|MRT44

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: methyltransferase like 23

Type of Gene: protein-coding

rs1382444181 in METTL23 gene and Dysmorphic features PMID 24501276 2014 METTL23, a transcriptional partner of GABPA, is essential for human cognition.

PMID 24626631 2014 Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

rs1462161137 in METTL23 gene and Multiple congenital anomalies PMID 24626631 2014 Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

PMID 24501276 2014 METTL23, a transcriptional partner of GABPA, is essential for human cognition.

rs1382444181 in METTL23 gene and Muscle hypotonia PMID 24501276 2014 METTL23, a transcriptional partner of GABPA, is essential for human cognition.

PMID 24626631 2014 Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.