title: The TBC1D1 gene: structure, function, and association with obesity and related traits.
abstract: This review summarizes what is currently known on the TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1) gene and gives an overview of its links with human obesity and related traits, taking also information from other animals. Several studies indicated that TBC1D1 contributes to the development of obesity by regulating skeletal muscle insulin sensitivity. A polymorphic site (p.R125W) in the human gene has been associated with female body mass index (BMI) in a few different cohorts. Few other polymorphisms in this gene were associated with BMI and diabetic nephropathy. Following a candidate gene approach, polymorphisms in the pig TBC1D1 gene were associated with fat deposition traits. In chicken, a few quantitative trait loci for growth and fat deposition were localized in the region containing TBC1D1. These complementary results could contribute to further understand the role of TBC1D1 in developing obesity.
authors: Department of Agricultural and Food Sciences-DISTAL, University of Bologna, Bologna, Italy. luca.fontanesi@unibo.it
authors: Luca
authors: L
authors: Fontanesi
authors: Francesca
authors: F
authors: Bertolini
mesh_terms: D000818:Animals; D020690:GTPase-Activating Proteins / Q000235:genetics / Q000378:metabolism*; D014644:Genetic Variation; D006801:Humans; D058751:Livestock; D009765:Obesity / Q000235:genetics* / Q000378:metabolism
chemical_list: D020690:GTPase-Activating Proteins; C526441:TBC1D1 protein, human