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Reviewed November 2013
What is the official name of the CBFB gene?
The official name of this gene is “core-binding factor, beta subunit.”
CBFB is the gene's official symbol. The CBFB gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CBFB gene?
The CBFB gene provides instructions for making a protein called core binding factor beta (CBFβ), which is one piece of a protein complex known as core binding factor (CBF). CBFβ attaches (binds) to one of three related RUNX proteins (RUNX1, RUNX2, or RUNX3) to form different versions of CBF. These protein complexes bind to specific regions of DNA and help turn on (activate) certain genes.
The presence of CBFβ helps the complex bind to DNA and protects the RUNX protein from being broken down. The function of CBF depends on which RUNX protein it includes. Once bound to DNA, the RUNX1 protein controls the activity of genes involved in the development of blood cells (hematopoiesis). The RUNX2 protein regulates genes important for bone cell development and formation of the skeleton. The RUNX3 protein primarily affects genes involved in the development of nerve cells.
How are changes in the CBFB gene related to health conditions?
Where is the CBFB gene located?
Cytogenetic Location: 16q22.1
Molecular Location on chromosome 16: base pairs 67,029,147 to 67,101,058
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The CBFB gene is located on the long (q) arm of chromosome 16 at position 22.1.
More precisely, the CBFB gene is located from base pair 67,029,147 to base pair 67,101,058 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CBFB?
You and your healthcare professional may find the following resources about CBFB helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CBFB gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CBFB?
acute ; acute myeloid leukemia ; AML ; cancer ; cell ; chromosome ; differentiation ; DNA ; enhancer ; fusion gene ; gene ; inversion ; leukemia ; myeloid ; protein ; rearrangement ; subunit ; translocation ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)