MICOS13
Function
Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane (PubMed:25997101, PubMed:27623147, PubMed:32567732). Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology (PubMed:25997101, PubMed:27623147, PubMed:32567732). Required for the incorporation of MICOS10/MIC10 into the MICOS complex (PubMed:25997101, PubMed:27623147).
Involvement in disease
Combined oxidative phosphorylation deficiency 37
COXPD37
An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MICOS complex subunit Mic13 family.
Cellular localization
- Mitochondrion inner membrane
- Single-pass membrane protein
- Enriched at crista junctions.
Alternative names
C19orf70, MIC13, QIL1, MICOS13, MICOS complex subunit MIC13, Protein P117