RUNX1T1 RUNX1 partner transcriptional co-repressor 1
Gene ID: 862, updated on 2-Nov-2024Gene type: protein coding
Also known as: CDR; ETO; MTG8; AML1T1; ZMYND2; CBFA2T1; AML1-MTG8
- See all available tests in GTR for this gene
- Go to complete Gene record for RUNX1T1
- Go to Variation Viewer for RUNX1T1 variants
Summary
This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Genomic context
- Location:
- 8q21.3
- Sequence:
- Chromosome: 8; NC_000008.11 (91954967..92103385, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RUNX1T1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- RUNX1T1 database
- Variation ViewerRelated Variants
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