CACHD1
CACHD1 is a human gene encoding a protein known as CACH domain-containing protein 1. The CACH domain (Calcium channel, voltage-gated, alpha subunit homology domain) is a conserved protein domain found in certain integral membrane proteins, particularly those associated with cation channels.
The precise function of CACHD1 remains under investigation, but its presence in the CACH domain superfamily suggests a role in ion transport, specifically calcium or other cation handling, and potentially in regulating membrane excitability. It is expressed in various tissues throughout the body, with varying expression levels reported across different cell types.
Research suggests potential involvement of CACHD1 in cellular processes related to neuronal function and development. Variations in the CACHD1 gene have been investigated in the context of neurological and psychiatric disorders, although definitive causal links are still being explored. Further studies are necessary to fully elucidate the biological role of CACHD1 and its potential clinical significance. The protein interacts with other proteins to carry out its function within the cell.