The chchd3 gene encodes a mitochondrial protein localized to the inner mitochondrial membrane. This protein functions in maintaining cristae junction integrity and is involved in the oxidative phosphor...[+]

The chchd3 gene encodes a mitochondrial protein localized to the inner mitochondrial membrane. This protein functions in maintaining cristae junction integrity and is involved in the oxidative phosphorylation pathway. It plays a role in ATP production through its association with complex iv of the mitochondrial respiratory chain. Expression has been detected in early developmental stages, including oocytes, eggs, and various embryonic tissues. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD