Methyltransferase-Like 23

Alternative Names

  • METTL23
  • Chromosome 17 Open Reading Frame 95
  • C17ORF95
Back to search Result
OMIM Number

615262

NCBI Gene ID

124512

Uniprot ID

Q86XA0

Length

8,064 bases

No. of Exons

7

No. of isoforms

2

Protein Name

Methyltransferase-like protein 23

Molecular Mass

21469 Da

Amino Acid Count

190

Genomic Location

chr17:76,725,873-76,733,936

Gene Map Locus
17q25.1

Description

The METTL23 gene codes for a protein, about which very little is known.  However, it belongs to a family of methyltransferases that have been predicted to have a function in chaperone protein regulation, protein folding, DNA repair, histone modification, splicing factor regulation, and signal transduction.  The METTL23 protein has recently been shown to be a functional interacting partner of GABPA, which is a transcriptional regulator.  Disruption of gene expression has been shown to have functional effects on GABP, leading to altered expression of GABP target genes; THPO and ATP5B.

Mutations in METTL23 have been implicated in one form of intellectual disability.  This could be due to abnormal methylation resulting in disrupted neuronal development via epigenetic and non-epigenetic pathways.

Molecular Genetics

The METTL23 gene is located on the long arm of chromosome 17 at 17q25.1, where it spans a length of 7 kb.  The gene consists of six exons, and there are at least seven known splice variants.  This protein has two known isoforms.  While isoform 1 (190 amino acids) has been found to localize to the ER, isoform 2 (123 amino acids) has a nuclear localization.  The protein is predicted to contain an adenosine-methionine or lysine-methyltransferase domain.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001080510.4:c.434_438delUnited Arab EmiratesNC_000017.11:g.76733547_76733551delUncertain SignificanceMental Retardation, Autosomal Recessive 44NG_041790.1:g.11718_11722del; NM_001080510.4:c.434_438del; NP_001073979.3:p.Leu145GlnfsTer12767883844
NM_001080510.5:c.169_172delUnited Arab Emirates; ...NC_000017.11:g.76733062_76733065delLikely Pathogenic, PathogenicPathogenicMental Retardation, Autosomal Recessive 44NG_041790.1:g.11233_11236del; NM_001080510.5:c.169_172del; NP_001073979.3:p.His57ValfsTer11587777644144023
© CAGS 2024. All rights reserved.