UQCC2

Chr 6

ubiquinol-cytochrome c reductase complex assembly factor 2

Also known as: C6orf125, C6orf126, Cbp6, M19, MC3DN7, MNF1, bA6B20.2

This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex III deficiency, nuclear type 7

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARModerateconsider for supplementary testing
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.04
LOEUF
Multiple*
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?
1.04LOEUF
pLI 0.019
Z-score 1.50
OE 0.45 (0.221.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.50Z-score
OE missense 0.83 (0.681.03)
59 obs / 70.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.221.04)
00.351.4
Missense OE?0.83 (0.681.03)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 4 / 8.8Missense obs/exp: 59 / 70.8Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UQCC2 · 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 →