METTL23 gene

methyltransferase like 23

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

From NCBI Gene:

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]

From UniProt:

Probable methyltransferase.

From NCBI Gene:

  • Mental retardation, autosomal recessive 44

From UniProt:

Mental 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. [MIM:615942]

Cytogenetic Location: 17q25.1, which is the long (q) arm of chromosome 17 at position 25.1

Molecular Location: base pairs 76,725,874 to 76,733,881 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q25.1, which is the long (q) arm of chromosome 17 at position 25.1
  • C17orf95
  • MRT44