Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) and it is a protein that is encoded by the RUNX1 gene, in humans.

Mar 30, 2025 · RUNX1 (RUNX Family Transcription Factor 1) is a Protein Coding gene. Diseases associated with RUNX1 include Platelet Disorder, Familial, With Associated Myeloid Malignancy and Hereditary Thrombocytopenia And Hematologic Cancer Predisposition Syndrome.

The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). Like other transcription factors, the RUNX1 protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

Mar 4, 2021 · RUNX1 -FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia and …

Apr 13, 2017 · RUNX1 is one of the most frequently mutated genes in a variety of hematological malignancies. Germ line mutations in RUNX1 cause familial platelet disorder with associated myeloid malignancies.

RUNX1/RUNX1T1 regulates gene expression at multiple levels. The fusion protein can dysregulate transcription by binding to promoter, enhancer, or silencer elements. RUNX1/RUNX1T1 also affects the ratios of RNA isoforms by regulating alternative promotor activity and affecting RNA splicing.

RUNX1 Familial Platelet Disorder (RUNX1-FPD) is a rare condition that can affect many parts of the body and results in higher risk for developing certain cancers. This condition is caused by harmful changes in the RUNX1 gene.

Mar 8, 2025 · 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 …

Dec 20, 2023 · The Runx1 gene, also known as the Runt-related transcription factor 1 (RUNX1), plays a crucial role in various cellular processes, including regulation of gene expression and differentiation of different cell lineages.

RUNX1 is a transcription factor and a master regulator for the specification of the hematopoietic lineage during embryogenesis and postnatal megakaryopoiesis. Mutations and rearrangements on RUNX1 are key drivers of hematological malignancies.