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Gene Symbol |
HMGCR |
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Aliases |
LDLCQ3 |
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Entrez Gene ID |
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Gene Name |
3-hydroxy-3-methylglutaryl-CoA reductase |
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Chromosomal Location |
5q13.3 |
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HGNC ID |
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Summary |
HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
3-hydroxy-3-methylglutaryl-Coenzyme A reductase, 3-hydroxy-3-methylglutaryl CoA reductase (NADPH), HMG-CoA reductase, hydroxymethylglutaryl-CoA reductase |
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Function |
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Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins |
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UniProt |
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PDB |
1DQ8, 1DQ9, 1DQA, 1HW8, 1HW9, 1HWI, 1HWJ, 1HWK, 1HWL, 2Q1L, 2Q6B, 2Q6C, 2R4F, 3BGL, 3CCT, 3CCW, 3CCZ, 3CD0, 3CD5, 3CD7, 3CDA, 3CDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000311469 |
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P09488 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Cardiovascular Diseases |
| Coronary heart disease |
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| Endocrine System Diseases |
| PCOS |
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| Immune System Diseases |
| Autoimmune Diseases |
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| Musculoskeletal Diseases |
| Myopathy |
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| Neoplasms |
| Lung Cancer |
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| Liver Cancer |
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| Nutritional and Metabolic Diseases |
| Hypercholesterolemia |
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| Renal Disorder |
| Kidney Failure |
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References |
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| Xu Ning, Taylor Kent D, Azziz Ricardo, Goodarzi Mark O |
| Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA. |
| Fertil Steril. 2010 Jun;94(1):255-60.e1-2. doi: 10.1016/j.fertnstert.2009.01.158. |
Abstract
OBJECTIVE: To study the role of genetic variation in the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase (HMGCR) gene in polycystic ovary syndrome (PCOS). DESIGN: Women with and without PCOS were genotyped for seven single-nucleotide polymorphisms (SNPs) in HMGCR. The SNPs and haplotypes were determined and tested for association with PCOS and its component traits. SETTING: Subjects were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham; control subjects were recruited from the surrounding community. Genotyping took place at Cedars-Sinai Medical Center in Los Angeles. PATIENT(S): A total of 287 white PCOS women and 187 control subjects were studied. INTERVENTION(S): Phenotypic and genotypic assessment. MAIN OUTCOME MEASURE(S): HMGCR genotype, PCOS diagnosis, androgen levels, metabolic traits. RESULT(S): No association with PCOS was observed. SNP rs4629571 was associated with increased insulin resistance. Haplotype 3 was associated with increased insulin resistance. Haplotype 5 was associated with higher SHBG and lower free T. CONCLUSION(S): Variation in the HMGCR gene may influence component features of PCOS, including insulin resistance, SHBG, and free T. HMGCR may thus act as a modifier gene in PCOS. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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