Gene: OXA1L

Alternate names for this Gene: OXA1

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: OXA1L mitochondrial inner membrane protein

Type of Gene: protein-coding

rs772751581 in OXA1L gene and Mitochondrial Diseases PMID 30201738 2018 OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

rs11157810 in OXA1L gene and Tonometry PMID 30591961 2019 Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.