Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial uncoupling protein 3

The UCP3 gene encodes a mitochondrial anion transporter which is involved in the regulation of energy consumption and heat production. Mutations cause type 2 diabetes with severe obesity in an autosomal dominant fashion.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Severe obesity and type 2 diabetes
UCP3

References:

1.

Echtay KS et. al. (2002) Superoxide activates mitochondrial uncoupling proteins.

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2.

Fleury C et. al. (1997) Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia.

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3.

Boss O et. al. (1997) Uncoupling protein-3: a new member of the mitochondrial carrier family with tissue-specific expression.

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4.

Vidal-Puig A et. al. (1997) UCP3: an uncoupling protein homologue expressed preferentially and abundantly in skeletal muscle and brown adipose tissue.

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5.

Bouchard C et. al. (1997) Linkage between markers in the vicinity of the uncoupling protein 2 gene and resting metabolic rate in humans.

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6.

Solanes G et. al. (1997) The human uncoupling protein-3 gene. Genomic structure, chromosomal localization, and genetic basis for short and long form transcripts.

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7.

Millet L et. al. (1997) Increased uncoupling protein-2 and -3 mRNA expression during fasting in obese and lean humans.

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8.

Boss O et. al. (1998) Genomic structure of uncoupling protein-3 (UCP3) and its assignment to chromosome 11q13.

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9.

Liu Q et. al. (1998) Uncoupling protein-3: a muscle-specific gene upregulated by leptin in ob/ob mice.

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10.

Walder K et. al. (1998) Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima indians.

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11.

Argyropoulos G et. al. (1998) Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes.

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12.

Pecqueur C et. al. (1999) Functional organization of the human uncoupling protein-2 gene, and juxtaposition to the uncoupling protein-3 gene.

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13.

Hinz W et. al. (1999) Recombinant human uncoupling protein-3 increases thermogenesis in yeast cells.

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14.

Brown AM et. al. (1999) Endogenous mutations in human uncoupling protein 3 alter its functional properties.

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15.

Gong DW et. al. (2000) Lack of obesity and normal response to fasting and thyroid hormone in mice lacking uncoupling protein-3.

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16.

Vidal-Puig AJ et. al. (2000) Energy metabolism in uncoupling protein 3 gene knockout mice.

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17.

Clapham JC et. al. (2000) Mice overexpressing human uncoupling protein-3 in skeletal muscle are hyperphagic and lean.

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18.

Dalgaard LT et. al. (2001) A prevalent polymorphism in the promoter of the UCP3 gene and its relationship to body mass index and long term body weight change in the Danish population.

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19.

Hesselink MK et. al. (2003) Increased uncoupling protein 3 content does not affect mitochondrial function in human skeletal muscle in vivo.

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20.

Mills EM et. al. (2003) Pharmacology: uncoupling the agony from ecstasy.

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21.

Russell AP et. al. (2003) Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3.

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22.

Choi CS et. al. (2007) Overexpression of uncoupling protein 3 in skeletal muscle protects against fat-induced insulin resistance.

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Update: Sept. 26, 2018