COX18 across dismech

COX18 (cytochrome c oxidase assembly factor COX18) is named by 2 disorder entries.

Normal function

COX18 is an Oxa1-family insertase that moves the C-terminal tail of the mtDNA-encoded subunit MT-CO2 across the inner mitochondrial membrane. It is an assembly factor and has no cytochrome-c oxidase activity of its own. ai-gene-review gives its core molecular function as membrane insertase activity, acting in mitochondrial respiratory chain complex IV assembly; and protein insertion into mitochondrial inner membrane from matrix, located in the mitochondrial inner membrane.

Causative records

Both entries type COX18 as causative: COX18-Related COX Deficiency; and Charcot-Marie-Tooth Disease Type 2. Both record the variants as germline (Charcot-Marie-Tooth Disease Type 2; COX18-Related COX Deficiency); in Charcot-Marie-Tooth Disease Type 2 the origin is germline. In COX18-Related COX Deficiency the gene sits on the node COX18 Loss and Defective COX2 Maturation, which conforms to the module complex_iv_assembly_deficiency.

Where the layers agree

The KB mechanism and ai-gene-review share mitochondrial respiratory chain complex IV assembly as a process term. ClinGen classifies COX18 for 0 diseases.