Promyelocytic leukemia gene

Promyelocytic leukemia gene (also known as PML) is a gene that in humans is encoded by the PML protein. This gene is involved in the formation of the PML nuclear body and it plays a critical role in apoptosis, cell proliferation, and tumor suppression.

Function

The PML gene is known to encode a protein that forms one component of a multiprotein complex known as the PML nuclear body. PML bodies are involved in a variety of important cellular processes, including apoptosis, cell proliferation, and DNA damage response. The PML protein is also known to interact with a variety of other proteins, including retinoic acid receptor alpha (RARa), DAXX, and others.

Clinical significance

Mutations in the PML gene are associated with acute promyelocytic leukemia (APL). APL is a subtype of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In APL, there are too many immature blood-forming cells in the bone marrow and blood. Most cases of APL are associated with a reciprocal translocation between chromosomes 15 and 17, which fuses part of the PML gene with part of the RARa gene.

See also

• PML nuclear body
• Acute promyelocytic leukemia
• Retinoic acid receptor alpha

External links

• PML gene on NCBI
• PML gene on GHR

Promyelocytic leukemia gene Resources
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