PHLDA2


Description

The PHLDA2 (pleckstrin homology like domain family A member 2) is a protein-coding gene located on chromosome 11.

PHLDA2, encoded by the PHLDA2 gene, is one of several genes located within the imprinted gene domain of 11p15.5. This region is recognized as a critical tumor suppressor gene area, and alterations within it have been linked to various cancers, including Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. While PHLDA2 is associated with these conditions, it is also implicated in Beckwith-Wiedemann syndrome. Interestingly, studies on the mouse PHLDA2 gene, also situated within an imprinted gene domain, have revealed that this gene's product regulates placental growth.

PHLDA2 plays a key role in regulating placental growth. It achieves this by interacting with its PH domain, competing with other PH domain-containing proteins to prevent their binding to membrane lipids.

PHLDA2 is also known as BRW1C, BWR1C, HLDA2, IPL, TSSC3.

Associated Diseases


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