Gene: LOC112267915

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1057519750 in LOC112267915;RUNX1 gene and Leukemia, Myelocytic, Acute PMID 19357396 2009 High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

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.

rs1060499616 in LOC112267915;RUNX1 gene and Platelet Disorder, Familial, with Associated Myeloid Malignancy PMID 10508512 1999 Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

PMID 25840971 2015 Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.

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

PMID 11830488 2002 In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

PMID 28960434 2018 Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

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