MICOS13

Chr 19

mitochondrial contact site and cristae organizing system subunit 13

Also known as: C19orf70, MIC12, MIC13, P117, QIL1

Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined oxidative phosphorylation deficiency 37

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.63
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.63LOEUF
pLI 0.001
Z-score 0.43
OE 0.81 (0.421.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.10Z-score
OE missense 1.04 (0.851.26)
69 obs / 66.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.421.63)
00.351.4
Missense OE?1.04 (0.851.26)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 5 / 6.2Missense obs/exp: 69 / 66.7Syn Z: 0.53

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →