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

Gene: LOC105370404

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1566433812 in OXA1L;LOC105370404 gene and Mitochondrial Diseases PMID 30201738 2018 OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.