protein
Myelin transcription factor 1-like protein
aka MyT1-L, MyT1L
Gene
MYT1L
Organism
Homo sapiens(9606)
Length
1186 aa
Mass
133,043 Da
MYT1L (myelin transcription factor 1-like protein) is a transcription factor essential for neuronal differentiation (UniProt: Q9UL68). It functions by selectively repressing non-neuronal genes during neuron development and suppressing negative regulators of neurogenesis such as Notch pathway members. The protein binds a specific DNA motif (5'-AAGTT-3') and recruits a repressor complex containing SIN3B. MYT1L is one of three factors sufficient to reprogram somatic cells into induced neurons in vitro, alongside ASCL1 and POU3F2.
MYT1L is broadly expressed during neural development and plays a central regulatory role in directing cellular differentiation toward neuronal fate. Loss-of-function mutations in MYT1L cause intellectual developmental disorder, autosomal dominant 39 (MRD39), characterized by significantly reduced intellectual functioning, adaptive behavior impairment, delayed psychomotor development, and autistic features (UniProt: Q9UL68).
MYT1L is classified as SFARI Category 1 with syndromic ASD association (SFARI Cat 1), indicating strong evidence linking MYT1L mutations to autism spectrum disorder, particularly in the context of broader developmental and intellectual disability 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
Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, mediates repression of multiple differentiation programs. Also represses expression of negative regulators of neurogenesis, such as members of the Notch signaling pathway, including HES1. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Directly binds the 5'-AAGTT-3' core motif present on the promoter of target genes and represses transcription by recruiting a multiprotein complex containing SIN3B. The 5'-AAGTT-3' core motif is absent from the promoter of neural genes
Disease associations
Intellectual developmental disorder, autosomal dominant 39MRD39
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD39 patients show delayed psychomotor development and autistic features.
Sources
Last updated 5/6/2026, 5:25:27 AM