OXA1L Chromosome 14
OXA1L mitochondrial inner membrane insertase
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What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000155463
Associated Conditions (1)
Mitochondrial disease
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1566433812 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS772751581 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |