What does the RUNX1 gene do?

RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. This complex provides stability to the RUNX1 protein which is involved in the generation of hematopoietic stem cells and for their differentiation into myeloid and lymphoid lines.

Where is the RUNX1 gene?

In humans, the gene RUNX1 is 260 kilobases (kb) in length, and is located on chromosome 21 (21q22. 12). The gene can be transcribed from 2 alternative promoters, promoter 1 (distal) or promoter 2 (proximal).

What is RUNX1 mutation?

RUNX1 is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in RUNX1 are usually secondary events, whereas in FPD/AML they are initiating events.

What is familial platelet disorder?

Familial platelet disorder with propensity to acute myelogenous leukemia, or FPD/AML (OMIM #601399), is a rare autosomal dominant condition, with only 12 families reported. It is characterized by qualitative and quantitative platelet defects and predisposition to the development of myeloid malignancies.

Is RUNX1 hereditary?

The RUNX1 gene was previously known as AML1 or CBFA2. FPD/AML is an inherited disorder, meaning that the mutated RUNX1 gene is passed down (inherited) from an affected parent such that patients with FPD/AML are born with the abnormal gene.

What is AML inversion 16?

Abnormalities of chromosome 16 are found in about 5–8% of acute myeloid leukemia (AML). The AML with inv(16)(p13. 1q22) or t (16;16)(p13. 1;q22) is associated with a high rate of complete remission (CR) and favorable overall survival (OS) when treated with high-dose Cytarabine.

What is FLT3 ITD?

FLT3-ITD is a common driver mutation that presents with a high leukemic burden and confers a poor prognosis in patients with AML. The prognostic value of a FLT3 mutation in the tyrosine kinase domain (FLT3-TKD), which has a lower incidence in AML (approximately 7–10% of all cases), is uncertain.

What are the diseases associated with the RUNX1 gene?

RUNX1 (RUNX Family Transcription Factor 1) is a Protein Coding gene. Diseases associated with RUNX1 include Platelet Disorder, Familial, With Associated Myeloid Malignancy and Leukemia, Acute Myeloid . Among its related pathways are Tight junction and Dual hijack model of Vif in HIV infection .

How does the RUNX1 protein control the development of blood cells?

Together, these proteins form one version of a complex known as core binding factor (CBF). The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis).

How are RunX and CBFB related to transcription?

RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5′-TGTGGT-3′, or very rarely, 5′-TGCGGT-3′, within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX.