UCP3

Chr 11ADARMulti

uncoupling protein 3

Also known as: SLC25A9

Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Obesity, severe, and type II diabetes}MIM #601665
ADARMulti
0
Active trials
58
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.74
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.74LOEUF
pLI 0.000
Z-score -0.41
OE 1.13 (0.73–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.31Z-score
OE missense 1.06 (0.95–1.19)
218 obs / 205.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.13 (0.73–1.74)
0≤0.351.4
Missense OE?1.06 (0.95–1.19)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 13 / 11.5Missense obs/exp: 218 / 205.6Syn Z: -1.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UCP3 · 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.

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