RUNX1T1 Chromosome 8
RUNX1 partner transcriptional co-repressor 1
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What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers MYND-type
Locus Type
gene with protein product
Location
8q21.3
Ensembl
ENSG00000079102
Associated Conditions (2)
NK-cell enteropathy
Short stature
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1587007112 | Health Risk | Likely pathogenic | NK-cell enteropathy, NK-cell enteropathy |
| RS1563765580 | Health Risk | Pathogenic | Short stature, Short stature |