protein
Mediator of RNA polymerase II transcription subunit 13-like
Gene
MED13L
Organism
Homo sapiens(9606)
Length
2210 aa
Mass
242,602 Da
MED13L (Mediator of RNA polymerase II transcription subunit 13-like) is a component of the Mediator complex, a coactivator essential for regulated transcription of RNA polymerase II-dependent genes (UniProt: Q71F56). The protein acts as a bridge conveying information from gene-specific regulatory proteins to the basal transcription machinery and serves as a scaffold for preinitiation complex assembly. It may specifically regulate transcription of Wnt and SHH signaling pathway targets.
MED13L is associated with impaired intellectual development and distinctive facial features with or without cardiac defects (MRFACD), an autosomal dominant syndrome characterized by intellectual disability, delayed psychomotor development, language impairment, and facial dysmorphism including frontal bossing, upslanting palpebral fissures, and depressed nasal bridge, with variable cardiac malformations. The condition shows variable penetrance of cardiac features.
MED13L carries SFARI classification 1 (high confidence) and is tagged as syndromic (SFARI Cat 1), indicating established association with autism spectrum disorder in the context of broader neurodevelopmental phenotypes.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway
Disease associations
Impaired intellectual development and distinctive facial features with or without cardiac defectsMRFACD
An autosomal dominant syndrome characterized by intellectual disability, delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries.
Sources
Last updated 5/6/2026, 5:25:29 AM