Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Electronic Gene Ontology annotations created by ARBA machine learning models
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.
The COX18 gene, involved in mitochondrial biogenesis, is functionally conserved and tightly regulated in humans and fission yeast.
Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
COX18 inserts nascent MT-CO2 in COX20:TMEM77
Falcon deep research report for human COX18
UniProtKB Q8N8Q8 (COX18_HUMAN) entry