Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

Related Diseases:

Severe obesity and type 2 diabetes
UCP3

References:

1.

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

external link
2.

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

external link
3.

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.

external link
4.

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

external link
5.

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

external link
6.

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.

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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.

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

NCBI article

NCBI 7352 external link
24.

OMIM.ORG article

Omim 602044 external link
25.

Wikipedia article

Wikipedia EN (UCP3) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues