- Oca2 [Search on AGR]
Homo sapiens This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
- rft-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables riboflavin transmembrane transporter activity. Involved in embryo development. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in several diseases, including Brown-Vialetto-Van Laere syndrome 1; Brown-Vialetto-Van Laere syndrome 2; and Fazio-Londe disease. Is an ortholog of human SLC52A2 (solute carrier family 52 member 2) and SLC52A3 (solute carrier family 52 member 3).
- rft-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables riboflavin transmembrane transporter activity. Involved in IRE1-mediated unfolded protein response. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in several diseases, including Brown-Vialetto-Van Laere syndrome 1; Brown-Vialetto-Van Laere syndrome 2; and Fazio-Londe disease. Is an ortholog of human SLC52A1 (solute carrier family 52 member 1); SLC52A2 (solute carrier family 52 member 2); and SLC52A3 (solute carrier family 52 member 3).
- Acot11 [Search on AGR]
Homo sapiens This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
- Ucp1 [Search on AGR]
Homo sapiens Mitochondrial uncoupling proteins (UCP) are members of the 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. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]
- brwd [Search on AGR]
Mus musculus PHENOTYPE: Mutant mice have a brown coat color. [provided by MGI curators]
- Rgsc798 [Search on AGR]
Mus musculus PHENOTYPE: Mice with a mutation of this gene have brown fur. [provided by MGI curators]
- Bola3 [Search on AGR]
Mus musculus PHENOTYPE: Mice in which the gene is deleted in fat tissue, show impaired glucose tolerance, impaired norepinephrine-induced brown adipose tissue thermogenesis, increased weight gain at thermoneutral temperature and decreased brown adipose tissue glucose uptake [provided by MGI curators]
- Prr30 [Search on AGR]
Homo sapiens ASSOCIATED WITH Tatton-Brown-Rahman syndrome; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; valproic acid