Aliases for OXA1L Gene
External Ids for OXA1L Gene
Previous GeneCards Identifiers for OXA1L Gene
This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]
GeneCards Summary for OXA1L Gene
OXA1L (OXA1L, Mitochondrial Inner Membrane Protein) is a Protein Coding gene. Diseases associated with OXA1L include Hyperthyroxinemia and Dysalbuminemic Hyperthyroxinemia. Among its related pathways are Protein export. GO annotations related to this gene include protein homodimerization activity and mitochondrial ribosome binding. An important paralog of this gene is COX18.
UniProtKB/Swiss-Prot for OXA1L Gene
Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria.