CBFB-MYH11 Fusion FISH Probe

CBFB Gene Summary

The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Name: Core-binding Factor Beta Subunit

Chromosome: CHR16: 67063049 -67134958

Locus: 16q22.1

MYH11 Gene Summary

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Gene Name: Myosin Heavy Chain 11

Chromosome: CHR16: 15796991 -15950887

Locus: 16p13.11

Add To Cart

Gene Diseases

The CBFB MYH11 Fusion has been associated with the following diseases:

Disease Name
Acute Myeloid Leukemia
Acute Myeloid Leukemia
Acute Myeloid Leukemia
Acute Myeloid Leukemia
Acute Myeloid Leukemia
Acute Myeloid Leukemia
Acute Myeloid Leukemia
Acute Myeloid Leukemia
Acute Myeloid Leukemia

FISH Probe Protocols

Protocol, Procedure, or Form Name	Last Modified	Download

Customer Publications