MYT1L myelin transcription factor 1 like
Gene ID: 23040, updated on 5-Mar-2024Gene type: protein coding
Also known as: NZF1; MRD39; myT1-L; ZC2H2C2; ZC2HC4B
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- Go to complete Gene record for MYT1L
- Go to Variation Viewer for MYT1L variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. GeneReviews: Not available | |
Genome-wide meta-analysis for severe diabetic retinopathy. GeneReviews: Not available | |
Intellectual disability, autosomal dominant 39 | See labs |
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. GeneReviews: Not available |
Copy number response
Description |
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Copy number response Triplosensitivity No evidence available (Last evaluated 2017-03-09) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-03-09) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2p25.3
- Sequence:
- Chromosome: 2; NC_000002.12 (1789113..2331275, complement)
- Total number of exons:
- 34
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for MYT1L variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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