What is the Origin of CSMD1?

The term is an acronym derived from the protein's characteristic structural motifs: the CUB domains, which are often found in immune and developmental proteins, and the Sushi domains, which are part of the complement control protein family. Its identification is a result of large-scale human genome sequencing projects and subsequent genetic association studies. Understanding its function provides insight into the complex interplay between genetics and systemic health.

What is the Mechanism of CSMD1?

The CSMD1 protein is believed to function as a cell-surface receptor or regulator, particularly active at the synapse in the brain and on immune cells. It is implicated in the complement cascade, a critical part of the innate immune system, where it may act to inhibit inappropriate complement activation. Genetic variations in CSMD1 can disrupt these regulatory functions, potentially leading to aberrant synaptic connectivity or chronic low-grade inflammation that impacts neuroendocrine axes.

CSMD1

Meaning

CSMD1 stands for CUB and Sushi Multiple Domains 1, which is a large gene located on human chromosome 8 encoding a protein involved in complement regulation and cell adhesion. This gene has garnered significant clinical attention due to its strong association with susceptibility to various complex conditions, including certain psychiatric disorders and cancers. While not a classic endocrine gene, its function in synaptic pruning and immune regulation links it to the broader hormonal and neuroinflammatory landscape.