PPFIA3
Description
The PPFIA3 (PTPRF interacting protein alpha 3) is a protein-coding gene located on chromosome 19.
PPFIA3, also known as Liprin-alpha-3, potentially plays a role in the breakdown of focal adhesions, which are structures that connect cells to the extracellular matrix. It may also direct the placement of receptor-like tyrosine phosphatases type 2A (RPTPs) on the cell membrane, influencing their communication with the external environment and their interactions with other molecules.
PPFIA3 is also known as LPNA3.
Associated Diseases
- Potocki-Lupski syndrome
- iridocorneal endothelial syndrome
- schizophrenia 15
- Rieger anomaly
- Phelan-McDermid syndrome
- developmental delay with autism spectrum disorder and gait instability
