RGD Reference Report - Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes. - Rat Genome Database

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Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes.

Authors: Argyropoulos, G  Brown, AM  Willi, SM  Zhu, J  He, Y  Reitman, M  Gevao, SM  Spruill, I  Garvey, WT 
Citation: Argyropoulos G, etal., J Clin Invest. 1998 Oct 1;102(7):1345-51.
RGD ID: 1625189
Pubmed: PMID:9769326   (View Abstract at PubMed)
PMCID: PMC508981   (View Article at PubMed Central)
DOI: DOI:10.1172/JCI4115   (Journal Full-text)

Human uncoupling protein 3 (UCP3) is a mitochondrial transmembrane carrier that uncouples oxidative ATP phosphorylation. With the capacity to participate in thermogenesis and energy balance, UCP3 is an important obesity candidate gene. A missense polymorphism in exon 3 (V102I) was identified in an obese and diabetic proband. A mutation introducing a stop codon in exon 4 (R143X) and a terminal polymorphism in the splice donor junction of exon 6 were also identified in a compound heterozygote that was morbidly obese and diabetic. Allele frequencies of the exon 3 and exon 6 splice junction polymorphisms were determined and found to be similar in Gullah-speaking African Americans and the Mende tribe of Sierra Leone, but absent in Caucasians. Moreover, in exon 6-splice donor heterozygotes, basal fat oxidation rates were reduced by 50%, and the respiratory quotient was markedly increased compared with wild-type individuals, implicating a role for UCP3 in metabolic fuel partitioning.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
obesity  IAGP 1625189DNA:SNP:exon:p.V102I (human)RGD 
obesity  ISOUCP3 (Homo sapiens)1625189; 1625189DNA:SNP:exon:p.V102I (human)RGD 
type 2 diabetes mellitus  IAGP 1625189DNA:SNP:exon:p.V102I (human)RGD 
type 2 diabetes mellitus  ISOUCP3 (Homo sapiens)1625189; 1625189DNA:SNP:exon:p.V102I (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ucp3  (uncoupling protein 3)

Genes (Mus musculus)
Ucp3  (uncoupling protein 3 (mitochondrial, proton carrier))

Genes (Homo sapiens)
UCP3  (uncoupling protein 3)


Additional Information