Gene: RUNX1

Alternate names for this Gene: AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha

Gene Summary: Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.12

Description of this Gene: RUNX family transcription factor 1

Type of Gene: protein-coding

Gene: LOC112267915

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1057519749 in RUNX1;LOC112267915 gene and Leukemia, Myelocytic, Acute PMID 24659740 2014 Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial.

PMID 24616160 2014 Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA.

PMID 24374719 2014 RUNX1 mutation associated with clonal evolution in relapsed pediatric acute myeloid leukemia with t(16;21)(p11;q22).

rs267607026 in RUNX1;LOC112267915 gene and Platelet Disorder, Familial, with Associated Myeloid Malignancy PMID 19357396 2009 High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

PMID 27112265 2016 Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

PMID 26175287 2015 Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.

PMID 23848403 2013 RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.

PMID 12060124 2002 A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.