MED12L
Homo sapiens
Gene Name: mediator complex subunit 12L
Aliases: NOPAR, TNRC11L, TRALP, TRALPUSH
Chromosome No: 3
Chromosome Band: 3q25.1
Genetic Category: Rare single gene variant-Syndromic
Aliases: NOPAR, TNRC11L, TRALP, TRALPUSH
Chromosome No: 3
Chromosome Band: 3q25.1
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 5
Evidence score: 3
ASD Reports: 7
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Rare de novo missense variants in the MED12L gene have been observed in ASD probands from simplex families (Iossifov et al., 2014; Yuen et al., 2017). Nizon et al., 2019 described a cohort of seven individuals harboring MED12L variants that presented with developmental delay/intellectual disability; furthermore, four of these individuals also presented with autism spectrum disorder/autistic features.
Molecular Function
The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Recent Recommendation
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional d...
DD, ID
ASD or autistic features
