P57

P57 is a term that can refer to several different entities in various fields, including biology, aviation, and automobiles. This article will focus on the biological aspect, specifically the P57 protein, also known as CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C), a protein that in humans is encoded by the CDKN1C gene.

Function

The P57 protein is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation. The protein is an important factor in cell cycle regulation and embryonic development. Mutations in the CDKN1C gene are associated with several diseases, including Beckwith-Wiedemann syndrome, IMAGe syndrome, and several types of cancer.

Structure

The P57 protein is a member of the Cip/Kip family of cyclin dependent kinase (Cdk) inhibitors. The protein structure includes several domains: a N-terminal domain that binds to the cyclin subunit of cyclin/Cdk complexes, a C-terminal domain that binds to the Cdk subunit, and a central domain that is responsible for nuclear localization.

Clinical significance

Mutations in the CDKN1C gene are associated with a variety of diseases. For example, loss of function mutations are associated with Beckwith-Wiedemann syndrome, a growth disorder characterized by overgrowth of several tissues in early life. On the other hand, gain of function mutations are associated with IMAGe syndrome, a growth disorder characterized by intrauterine growth restriction and metaphyseal dysplasia.

In addition, the P57 protein is often underexpressed in cancer cells, and its loss is associated with poor prognosis in several types of cancer, including breast cancer, lung cancer, and colorectal cancer.

See also

• Cyclin-dependent kinase
• Cell cycle
• Beckwith-Wiedemann syndrome
• IMAGe syndrome