The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells. This chromosome is defective and unusually short because of reciprocal translocation, t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22, and contains a fusion gene called BCR-ABL1. This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for a hybrid protein: a tyrosine kinase signaling protein that is "always on", causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle.
T-cell acute lymphocytic leukemia protein 1 is a protein that in humans is encoded by the TAL1 gene.
Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) is a protein that in humans is encoded by the RUNX1 gene.
Zinc finger and BTB domain-containing protein 16 is a protein that in humans is encoded by the ZBTB16 gene.
Friend leukemia integration 1 transcription factor (FLI1), also known as transcription factor ERGB, is a protein that in humans is encoded by the FLI1 gene, which is a proto-oncogene.
Afadin is a protein that in humans is encoded by the AFDN gene.
LIM domain only 2, also known as LMO2, RBTNL1, RBTN2, RHOM2, LIM Domain Only Protein 2, TTG2, and T-Cell Translocation Protein 2, is a protein which in humans is encoded by the LMO2 gene.
Histone-lysine N-methyltransferase 2A, also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia1 (MLL1), or zinc finger protein HRX (HRX), is an enzyme that in humans is encoded by the KMT2A gene.
Protein CBFA2T1 is a protein that in humans is encoded by the RUNX1T1 gene.
T-cell leukemia homeobox protein 1 is a protein that in humans is encoded by the TLX1 gene, which was initially named HOX11.
Rhombotin-1 is a protein that in humans is encoded by the LMO1 gene.
Septin-6 is a protein that in humans is encoded by the SEPT6 gene.
Protein AF-10 is a protein that in humans is encoded by the MLLT10 gene.
Protein lyl-1 is a protein that in humans is encoded by the LYL1 gene.
Protein AF-9 is a protein that in humans is encoded by the MLLT3 gene.
AF4/FMR2 family member 3 is a protein that in humans is encoded by the AFF3 gene.
Protein ENL is a protein that in humans is encoded by the MLLT1 gene.
T-cell acute lymphocytic leukemia 2, also known as TAL2, is a protein which in humans is encoded by the TAL2 gene.
AI-10-49 is a small molecule inhibitor of leukemic oncoprotein CBFβ-SMHHC developed by the laboratory of John Bushweller with efficacy demonstrated by the laboratories of Lucio H. Castilla and Monica Guzman. AI-10-49 allosterically binds to CBFβ-SMMHC and disrupts protein-protein interaction between CBFβ-SMMHC and tumor suppressor RUNX1. This inhibitor is under development as an anti-leukemic drug.
AF4/FMR2 (AFF) is a family of nuclear transcriptional activators that encourage RNA elongation. There are four genes in this family, all of which reside in the nucleus of the cells. The gene family includes AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31. Within the family, the AFF2/FMR2 is silenced in FRAXE intellectual disability; while the other three gene families will form fusion genes as a consequence of chromosome translocations with the myeloid/lymphoid or mixed lineage leukemia gene in acute lymphoblastic leukemias. While different members of the AF4/FMR2 family are known for playing various roles in cells, they all commonly participate in the regulation of splicing and transcription.
