OXA1L
Mitochondrial inner membrane protein OXA1L
Gene Information Card
| Symbol | OXA1L |
|---|---|
| Full Name | OXA1L mitochondrial inner membrane protein |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 5018 ncbi.nlm.nih.gov/gene/5018 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q15070 |
| OMIM ID | 601110 |
| HGNC ID | 8526 |
| Aliases | OXA1, OXA1L1, COX assembly factor |
Description
OXA1L encodes a mitochondrial inner membrane protein that is a component of the mitochondrial protein export machinery. It is required for the insertion of nuclear-encoded proteins into the inner membrane and for the assembly of cytochrome c oxidase (complex IV) of the respiratory chain. Mutations in OXA1L cause mitochondrial complex IV deficiency, leading to early-onset encephalopathy and other mitochondrial disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 23 (MC4DN23) | Loss-of-function mutations impair OXA1L-mediated insertion of COX subunits, reducing complex IV activity | OMIM #619059 |
| Encephalopathy, progressive, with or without lipodystrophy | OXA1L deficiency disrupts mitochondrial respiration, leading to neurological degeneration | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 8.7 | Medium |
| Liver | 5.1 | Low |
| Brain | 6.4 | Low |
| Kidney | 7.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| HepG2 | 6.5 | Low expression |
| SH-SY5Y | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404G>A (p.Arg135Gln) | Missense | Rare | Impaired protein insertion into mitochondrial inner membrane |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of OXA1L protein |
| c.682C>T (p.Arg228*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, and start-loss mutations reduce or abolish OXA1L activity, leading to complex IV deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Protein insertion into mitochondrial inner membrane |
| • Cytochrome-c oxidase activity | • Mitochondrial respiratory chain complex IV assembly |
| • Protein transport |
Pathways
• Mitochondrial protein import
• Oxidative phosphorylation
• Cytochrome c oxidase assembly
Protein Summary
OXA1L is a 435-amino acid mitochondrial inner membrane protein with five transmembrane domains. It functions as part of the OXA complex to mediate the insertion of nuclear-encoded mitochondrial proteins into the inner membrane, particularly subunits of cytochrome c oxidase. The protein is essential for complex IV assembly and mitochondrial respiration.
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