PML gene

PML gene is a gene in humans that encodes the protein PML. This protein is a member of the tripartite motif (TRIM) family, which is characterized by the presence of a RING finger, one or two B-box domains, and a coiled-coil region. The PML protein is expressed in the nucleus where it forms a structure known as the PML nuclear body. This structure is involved in a variety of cellular processes, including cell growth, apoptosis, and antiviral responses.

Function

The PML protein is involved in a variety of cellular processes. It plays a role in cell growth and apoptosis, and it is also involved in antiviral responses. The PML protein forms a structure in the nucleus known as the PML nuclear body, which is thought to be involved in these processes.

Clinical significance

Mutations in the PML gene have been associated with a variety of diseases. For example, a specific translocation involving the PML gene and the RARα gene is associated with acute promyelocytic leukemia (APL). This translocation results in the production of a fusion protein that disrupts the normal function of the PML protein.

See also

• Tripartite motif family
• PML nuclear body
• Acute promyelocytic leukemia

References

PML gene Resources
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