MICOS13
Chr 19ARmitochondrial contact site and cristae organizing system subunit 13
Also known as: C19orf70, MIC12, MIC13, P117, QIL1
The MICOS13 protein is a component of the MICOS complex that maintains mitochondrial inner membrane architecture and cristae junction formation, which are essential for proper oxidative phosphorylation. Mutations cause combined oxidative phosphorylation deficiency 37, inherited in an autosomal recessive pattern. This gene appears to tolerate loss-of-function variants relatively well in the population (low constraint), suggesting that biallelic mutations are required for disease manifestation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MICOS13 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools