OXA1L

Chr 14q11.2

OXA1L mitochondrial inner membrane insertase

Aliases:: MGC133129, OXA1, OXA1L1
MANE:: ENST00000612549.6

OMIM: 601066 ↗NCBI: 5018 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

OXA1L · Q15070

v62025-08-01

Predicted Aligned Error matrix for OXA1L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.8/ 100

Confident

435 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)28%
Low(50–70)9%
Very low(< 50)26%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Mitochondrial disorder with complex IV deficiency
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
Unknown

Disease associations (Open Targets)

mitochondrial disease
0.42
lysinuric protein intolerance
0.33
prostate cancer
0.11
Familial prostate cancer
0.11
myoepithelial tumor
0.11
alcohol drinking
0.07
exostosis
0.06
dementia
0.06
post term pregnancy
0.05
cervical carcinoma
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mitochondrial inner membrane protein OXA1L

Mitochondrial membrane insertase that mediates the cotranslational insertion of integral membrane proteins into the mitochondrial inner membrane (PubMed:17936786, PubMed:33602856, PubMed:7991568). Essential for the activity and assembly of cytochrome oxidase (PubMed:17936786, PubMed:7991568). Required for the correct biogenesis of ATP synthase and complex I in mitochondria (PubMed:17936786, PubMed:7991568)