CHCHD7
Description
The CHCHD7 (coiled-coil-helix-coiled-coil-helix domain containing 7) is a protein-coding gene located on chromosome 8.
CHCHD7 is a gene that encodes a protein involved in mitochondrial function. It plays a role in the assembly and stability of mitochondrial complexes, and mutations in this gene are associated with various neurological disorders, including pontocerebellar hypoplasia.
CHCHD7 is also known as COX23.
Associated Diseases
- salivary gland adenoid cystic carcinoma
- salivary gland mucoepidermoid carcinoma
- urinary bladder carcinoma
- skin squamous cell carcinoma
- pancreatic ductal adenocarcinoma