Genetics Of Obesity
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Genetics Of Obesity
Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors. Studies have identified variants in several genes that may contribute to weight gain and body fat distribution; although, only in a few cases are genes the primary cause of obesity. Polymorphisms in various genes controlling appetite and metabolism predispose to obesity under certain dietary conditions. The percentage of obesity that can be attributed to genetics varies widely, depending on the population examined, from 6% to 85%, with the typical estimate at 50%. It is likely that in each person a number of genes contribute to the likelihood of developing obesity in small part, with each gene increasing or decreasing the odds marginally, and together determining how an individual responds to the environmental factors. As of 2006, more than 41 sites on the human genome have been linked to the development of obesity when a favorable environment is present. Some o ...
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La Monstrua Desnuda (1680), De Juan Carreño De Miranda
LA most frequently refers to Los Angeles, the second largest city in the United States. La, LA, or L.A. may also refer to: Arts and entertainment Music * La (musical note), or A, the sixth note * "L.A.", a song by Elliott Smith on Figure 8 (album), ''Figure 8'' (album) * L.A. (EP), ''L.A.'' (EP), by Teddy Thompson * ''L.A. (Light Album)'', a Beach Boys album * L.A. (Neil Young song), "L.A." (Neil Young song), 1973 * The La's, an English rock band * L.A. Reid, a prominent music producer * Yung L.A., a rapper * Lady A, an American country music trio * L.A. (Amy Macdonald song), "L.A." (Amy Macdonald song), 2007 * "La", a song by Australian-Israeli singer-songwriter Old Man River (musician), Old Man River Other media * l(a, a poem by E. E. Cummings * La (Tarzan), fictional queen of the lost city of Opar (Tarzan) * ''Lá'', later known as Lá Nua, an Irish language newspaper * La7, an Italian television channel * LucasArts, an American video game developer and publisher * Liber A ...
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INSIG2
Insulin induced gene 2, also known as INSIG2, is a protein which in humans is encoded by the ''INSIG2'' gene. Regulation Insulin activates the human INSIG2 promoter in a process mediated by phosphorylated SAP1a. Akt mediates suppression of Insig2a, a liver-specific transcript encoding the SREBP1c inhibitor INSIG2. MCHR2 has been observed to significantly decrease INSIG2. Insig2 is upregulated under hypoxic conditions and is associated with the malignant potential of pancreatic cancer. A novel 1alpha,25-dihydroxyvitamin D3 ,25-(OH)2D3response element in the promoter region of Insig-2 gene was identified which specifically binds to the heterodimer of retinoid X receptor and vitamin D receptor (VDR) and directs VDR-mediated transcriptional activation in a 1,25-(OH)2D3-dependent manner. 1,25-(OH)2D3 transiently but strongly induces Insig-2 expression in 3T3-L1 cells. This novel regulatory circuit may also play important roles in other lipogenic cell types that express VDR. F ...
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LYPLAL1
Lysophospholipase-like 1 is a protein in humans that is encoded by the LYPLAL1 gene. The protein is a α/β-hydrolase of uncharacterized metabolic function. Genome-wide association studies in humans have linked the gene to fat distribution and waist-to-hip ratio. The protein's enzymatic function is unclear. LYPLAL1 was reported to act as a triglyceride lipase in adipose tissue and another study suggested that the protein may play a role in the depalmitoylation of calcium-activated potassium channels. However, LYPLAL1 does not depalmitoylate the oncogene Ras and a structural and enzymatic study concluded that LYPLAL1 is generally unable to act as a lipase and is instead an esterase that prefers short-chain substrates, such as acetyl groups. Structural comparisons have suggested that LYPLAL1 might be a protein deacetylase, but this has not been experimentally tested. Relationship to acyl-protein thioesterases Sequence conservation and structural homology suggest a close relatio ...
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NPC1
Niemann-Pick disease, type C1 (NPC1) is a disease of a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the ''NPC1'' gene (chromosome location 18q11). Function NPC1 was identified as the gene that when mutated, results in Niemann-Pick disease, type C. Niemann-Pick disease, type C is a rare neurovisceral lipid storage disorder resulting from autosomal recessively inherited loss-of-function mutations in either NPC1 or NPC2. This disrupts intracellular lipid transport, leading to the accumulation of lipid products in the late endosomes and lysosomes. Approximately 95% of NPC patients are found to have mutations in the NPC1 gene. NPC1 encodes a putative integral membrane protein containing sequence motifs consistent with a role in intracellular transport of cholesterol and sphingosine to post-lysosomal destinations. Clinical significance Obesity Mutations in the NPC1 gene have been strongly linked with ob ...
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PCSK1
Proprotein convertase 1, also known as prohormone convertase, prohormone convertase 3, or neuroendocrine convertase 1 and often abbreviated as PC1/3 is an enzyme that in humans is encoded by the ''PCSK1'' gene. PCSK1 and PCSK2 differentially cleave proopiomelanocortin and they act together to process proinsulin and proglucagon in pancreatic islets. Function PC1/3 is an enzyme that performs the proteolytic cleavage of prohormones to their intermediate (or sometimes completely cleaved) forms. It is present only in neuroendocrine cells such as brain, pituitary and adrenal, and most often cleaves after a pair of basic residues within prohormones but can occasionally cleave after a single arginine. It binds to a protein known as proSAAS, which also represents its endogenous inhibitor. PC1 is synthesized as a 99 kDa proform quickly converted to an 87 kDa major active form, which itself is nearly completely cleaved to a 66 kDa active form within neuroendocrine cells. Proprotein conv ...
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MTCH2
Mitochondrial carrier homolog 2 also known as MTCH2 is a protein which in humans is encoded by the ''MTCH2'' gene. MTCH2 resides on the outer mitochondrial membrane where it co-localizes with the apoptotic Bcl-2 family protein BID. Clinical significance MTCH2 assists in the recruitment of BID into the mitochondria during apoptosis. Variants of the MTCH2 gene may be associated with obesity. MTCH2 represses mitochondrial metabolism such that a deficiency of MTCH2 increases energy consumption and production by mitochondria. See also * Mitochondrial carrier Mitochondrial carriers are proteins from solute carrier family 25 which transfer molecules across the membranes of the mitochondria. Mitochondrial carriers are also classified in thTransporter Classification Database The Mitochondrial Carrier (M ... References Further reading

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SH2B1
SH2B adapter protein 1 is a protein that in humans is encoded by the ''SH2B1'' gene. Interactions SH2B1 has been shown to interact with: * Grb2, * Insulin receptor, * Janus kinase 2, and * TrkA. Clinical significance Variations close to or in the SH2B1 gene have been found to associate with obesity in two very large genome wide association studies of body mass index (BMI). Furthermore, SH2B1 deletions are associated with severe early-onset obesity. See also * Genetics of obesity Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors. Studies have identified variants in several genes that may contribute to weight gain and body fat distribution; although, only i ... References Further reading

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KCTD15
Potassium channel tetramerisation domain containing 15 also known as BTB/POZ domain-containing protein KCTD15 is protein that in humans is encoded by the ''KCTD15'' gene. Clinical significance Variants of the KCTD15 gene may be associated with obesity Obesity is a medical condition, sometimes considered a disease, in which excess body fat has accumulated to such an extent that it may negatively affect health. People are classified as obese when their body mass index (BMI)—a person's we .... See also * Potassium channel tetramerisation domain References Further reading

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BDNF
Brain-derived neurotrophic factor (BDNF), or abrineurin, is a protein found in the and the periphery. that, in humans, is encoded by the ''BDNF'' gene. BDNF is a member of the neurotrophin family of growth factors, which are related to the canonical nerve growth factor (NGF), a family which also includes NT-3 and NT-4/NT-5. Neurotrophic factors are found in the brain and the periphery. BDNF was first isolated from a pig brain in 1982 by Yves-Alain Barde and Hans Thoenen. BDNF activates the TrkB tyrosine kinase receptor. Function BDNF acts on certain neurons of the central nervous system and the peripheral nervous system expressing TrkB, helping to support survival of existing neurons, and encouraging growth and differentiation of new neurons and synapses. In the brain it is active in the hippocampus, cortex, and basal forebrain—areas vital to learning, memory, and higher thinking. BDNF is also expressed in the retina, kidneys, prostate, motor neurons, and skeletal m ...
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NEGR1
Neuronal growth regulator 1 also known as NEGR1 is a protein which in humans is encoded by the ''NEGR1'' gene. Clinical significance Variants of the NEGR1 gene may be associated with obesity Obesity is a medical condition, sometimes considered a disease, in which excess body fat has accumulated to such an extent that it may negatively affect health. People are classified as obese when their body mass index (BMI)—a person's ... and major depression. References Further reading * * * * * * * * * * * * * * Human proteins {{gene-1-stub ...
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GNPDA2
Glucosamine-6-phosphate deaminase 2 also known as GNPDA2 is an enzyme that in humans is encoded by the ''GNPDA2'' gene. Clinical significance Variants of the GNPDA2 gene may be associated with obesity Obesity is a medical condition, sometimes considered a disease, in which excess body fat has accumulated to such an extent that it may negatively affect health. People are classified as obese when their body mass index (BMI)—a person's we .... References Further reading

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TMEM18
Transmembrane protein 18 also known as TMEM18 is a protein which in humans is encoded by the ''TMEM18'' gene. Function TMEM18 seems to affect energy levels through insulin and glucagon signaling, and in flies, its downregulation induces a metabolic state resembling type-II diabetes Overexpression of the TMEM18 protein increases the migration capacity of neural stem cells while inactivation of TMEM18 results in almost complete loss of migration activity. The TMEM18 gene is ubiquitously expressed in both mammalian and fly tissues, which suggests a basic cellular function. In the mouse brain, it is found in the majority of all cells, but is more abundant in neurons than other cell types. Clinical significance Genetic variants in the proximity of the TMEM18 gene are associated with obesity Obesity is a medical condition, sometimes considered a disease, in which excess body fat has accumulated to such an extent that it may negatively affect health. People are classified ...
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