CSMD1
Description
The CSMD1 (CUB and Sushi multiple domains 1) is a protein-coding gene located on chromosome 8.
CSMD1 (CUB and Sushi multiple domains 1) is a protein encoded by the CSMD1 gene in humans. It contains 14 N-terminal CUB domains separated by Sushi domains, followed by 15 additional tandem Sushi domains. CSMD1 is thought to function as a Complement control protein, similar to other proteins with Sushi domains. It has been implicated as a potential tumor suppressor, with deletions potentially leading to more aggressive head and neck carcinomas. Reduced CSMD1 protein expression has been observed in invasive breast cancer, contributing to cell transformation through increased division, migration, and invasion. In a 3D breast duct model, reduced CSMD1 expression hindered breast duct formation. Certain CSMD1 genetic variants are associated with schizophrenia risk, potentially due to dysregulated complement activation in the central nervous system, leading to excessive synaptic pruning.
CSMD1 is also known as PPP1R24.
