MYT1L

Myelin transcription factor 1 like is a protein that in humans is encoded by the MYT1L gene. ^[5]

MYT1L
Identifiers
Aliases	MYT1L, NZF1, ZC2HC4B, MRD39, ZC2H2C2, myelin transcription factor 1 like, myT1-L
External IDs	OMIM: 613084; MGI: 1100511; HomoloGene: 7435; GeneCards: MYT1L; OMA:MYT1L - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p25.3 Start 1,789,113 bp[1] End 2,331,664 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 A2|12 11.86 cM Start 29,528,384 bp[2] End 29,923,213 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 Region I of hippocampus proper Brodmann area 46 primary visual cortex orbitofrontal cortex postcentral gyrus middle temporal gyrus superior frontal gyrus entorhinal cortex Top expressed in olfactory tubercle cingulate gyrus anterior amygdaloid area lateral septal nucleus nucleus accumbens Region I of hippocampus proper subiculum ventromedial nucleus substantia nigra primary motor cortex More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding zinc ion binding metal ion binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific Cellular component nucleus chromosome Biological process multicellular organism development cell differentiation regulation of transcription, DNA-templated transcription, DNA-templated nervous system development negative regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II neuron differentiation neuron fate commitment neuron fate specification neuron development positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23040 17933 Ensembl ENSG00000186487 ENSMUSG00000061911 UniProt Q9UL68 P97500 RefSeq (mRNA) NM_001303052 NM_015025 NM_001329844 NM_001329845 NM_001329846 NM_001329847 NM_001329848 NM_001329849 NM_001329851 NM_001329852 NM_001093775 NM_001093776 NM_001093778 NM_008666 NM_001361655 NM_001361656 NM_001361657 NM_001361658 NM_001361659 NM_001361660 RefSeq (protein) NP_001289981 NP_001316773 NP_001316774 NP_001316775 NP_001316776 NP_001316777 NP_001316778 NP_001316780 NP_001316781 NP_055840 NP_001087244 NP_001087245 NP_001087247 NP_032692 NP_001348584 NP_001348585 NP_001348586 NP_001348587 NP_001348588 NP_001348589 Location (UCSC) Chr 2: 1.79 – 2.33 Mb Chr 12: 29.53 – 29.92 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017].

MYT1L syndrome

MYT1L syndrome is a rare neurodevelopmental disorder caused by mutations or deletions in the MYT1L gene, which encodes a transcription factor involved in brain development. Individuals with MYT1L syndrome often present with a range of features, including intellectual disability, severe cognitive impairment, extreme emotional dysregulation, autistic behaviors, hypotonia (low muscle tone), epilepsy, developmental delays, insatiable appetite leading to obesity and other behavioral and psychiatric challenges. The syndrome was first recognized through exome sequencing studies and has since been documented in several hundred individuals worldwide. Diagnosis is typically made via genetic testing.

The MYT1L Project Foundation is a parent-led, scientist-supported foundation established in 2025 to advance research into evidence-based interventions for MYT1L Neurodevelopmental Syndrome. The foundation is uniting families impacted by MYT1L syndrome and is working together towards a cure. https://www.myraregene.org/