PDLIM7
Description
The PDLIM7 (PDZ and LIM domain 7) is a protein-coding gene located on chromosome 5.
PDLIM7 is a protein encoded by the PDLIM7 gene in humans. It belongs to a family of proteins characterized by conserved PDZ and LIM domains. LIM domains are involved in protein-protein interactions, playing roles in gene transcription, development, and cytoskeletal interaction. PDLIM7's LIM domains bind to protein kinases, while its PDZ domain binds to actin filaments. This protein is essential for assembling an actin filament-associated complex that transmits ret/ptc2 mitogenic signaling. PDLIM7 acts as an adapter, localizing LIM-binding proteins to actin filaments in both skeletal muscle and non-muscle tissues. Alternative splicing of the PDLIM7 gene produces multiple transcript variants. PDLIM7 has been shown to interact with TPM2.
PDLIM7 acts as a scaffold, coordinating the assembly of proteins. It serves as an adapter, using its PDZ domain to localize LIM-binding proteins to actin filaments in both skeletal muscle and non-muscle tissues. PDLIM7 is involved in both direct and endochondral bone formation, contributing to the development of embryonic flat bones (mandible, cranium) and long bones. It plays a role in fracture repair and participates in the BMP6 signaling pathway.
PDLIM7 is also known as LMP1, LMP3.
Associated Diseases
- extranodal nasal NK/T cell lymphoma
- nonpapillary renal cell carcinoma
- cancer
- beta-thalassemia-X-linked thrombocytopenia syndrome
- post-transplant lymphoproliferative disease
