|
|
Gene Symbol |
SLC2A1 |
|
Aliases |
CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1, GLUT1DS, HTLVR, PED, SDCHCN |
|
Entrez Gene ID |
|
|
Gene Name |
Solute carrier family 2 member 1 |
|
Chromosomal Location |
1p34.2 |
|
HGNC ID |
|
|
Summary |
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
|
|
RefSeq DNA |
|
|
RefSeq mRNA |
|
|
e!Ensembl
|
Protein Information |
|
Protein Name |
Solute carrier family 2, facilitated glucose transporter member 1, choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity), glucose transporter type 1, erythrocyte/brain, hepG2 glucose transporter, human T-cell leukemia virus (I and II) receptor, receptor for HTLV-1 and HTLV-2, solute carrier family 2 (facilitated glucose transporter), member 1 |
|
Function |
Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:10227690). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (PubMed:10227690). |
|
|
|
|
|
UniProt |
|
|
PDB |
|
|
Pfam |
Pfam Accession |
Pfam ID |
PF00083 |
Sugar_tr |
|
|
|
|
|
| |
Associated Diseases
Disease group | Disease Name | References |
Blood Disorders |
Anemia |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Genetic Diseases |
26598494, 23443458, 24963779, 20221955, 1714544, 26537434, 21791420, 18577546, 10766892, 12752470, 26304067, 21555602, 23306390, 20129935, 19798636, 22492876, 23280796, 20687207, 21832227, 26336901, 26193382 |
Microcephaly |
|
Atonic seizures |
|
Microlissencephaly |
|
Stomatin-deficient cryohydrocytosis with neurologic defects |
|
Endocrine System Diseases |
Diabetes Mellitus |
|
PCOS |
|
Musculoskeletal Diseases |
Osteoarthrosis Deformans |
|
Arthritis |
|
Neoplasms |
Renal Cancer |
|
Breast Cancer |
|
Ovarian Cancer |
|
Liver Cancer |
|
Breast Hyperplasia |
|
Colonic Neoplasms |
|
Intraductal Carcinoma |
|
Ductal Carcinoma |
|
Lung Cancer |
|
Peritoneal Neoplasms |
|
Vulvar Cancer |
|
Nervous System Diseases |
Dystonia |
21832227, 19798636, 18606970, 8808284, 18403583, 19630075, 14605501, 18451999, 19996082, 18577546, 20129935, 20574033, 20830593, 20621801, 21204808 |
Seizures |
|
Jacksonian Seizure |
|
Rubral Tremor |
|
Nutritional and Metabolic Diseases |
GLUT1 Deficiency Syndrome |
19901175, 15622525, 24847886, 20129935, 20574033, 10980529, 12325075, 20221955, 11136715, 11603379, 10227690, 25741868, 9462754, 17489814, 9335548, 18403583, 21865127, 21832227, 23106342, 19996082, 25487684, 21555602, 24080273, 22704013, 28554332, 28492532, 11102982, 23448551, 26193382, 22976442, 2057 |
Inborn Errors of Metabolism |
|
Psychiatric/Brain disorders |
Intellectual Disability |
|
Child Development Deviations |
|
Developmental Disabilities |
|
|
References |
|
|
Dastorani Majid, Aghadavod Esmat, Mirhosseini Naghmeh, Foroozanfard Fatemeh, Zadeh Modarres Shahrzad, Amiri Siavashani Mehrnush, Asemi Zatollah |
Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran. aghadavod_m@yahoo.com.| School of Public Health, University of Saskatchewan, Saskatoon, SK, Canada.| Department of Gynecology and Obstetrics, School of Medicine, Kashan University of Medical Sciences, Kashan, I.R, Iran.| Laser Application in Medical Science Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.| Taleghani Educational Hospital, IVF Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran. asemi_r@yahoo.com. |
Reprod Biol Endocrinol. 2018 Oct 4;16(1):94. doi: 10.1186/s12958-018-0413-3. |
Abstract
BACKGROUND: Vitamin D deficiency in women diagnosed with polycystic ovary syndrome (PCOS) remarkably decreases the chance of pregnancy, which might be related to its impact on metabolic abnormalities in these patients. It is hypothesized that vitamin D supplementation influences metabolic profile of these patients and indirectly might affect fertility and the outcomes. Therefore, this study was conducted to determine the effects of vitamin D supplementation on the levels of anti-Mullerian hormone (AMH), metabolic profiles, and gene expression of insulin and lipid metabolism in infertile women with PCOS who were candidate for in vitro fertilization (IVF). METHODS: This study was a randomized, double-blinded, placebo-controlled trial conducted among 40 infertile women, aged 18-40 years, diagnosed with PCOS and was candidate for IVF. Participants were randomly assigned into two intervention groups for receiving either 50,000 IU vitamin D or placebo (n = 20 each group) every other week for 8 weeks. Gene expression for insulin and lipid metabolism was conducted using peripheral blood mononuclear cells (PBMCs) of women with PCOS, via RT-PCR method. RESULTS: Vitamin D supplementation led to a significant reduction in serum AMH (- 0.7 +/- 1.2 vs. - 0.1 +/- 0.5 ng/mL, P = 0.02), insulin levels (- 1.4 +/- 1.6 vs. -0.3 +/- 0.9 muIU/mL, P = 0.007), homeostatic model of assessment for insulin resistance (- 0.3 +/- 0.3 vs. -0.1 +/- 0.2, P = 0.008), and a significant increase in quantitative insulin sensitivity check index (+ 0.009 +/- 0.01 vs. + 0.001 +/- 0.004, P = 0.04), compared with the placebo. Moreover, following vitamin D supplementation there was a significant decrease in serum total- (- 5.1 +/- 12.6 vs. + 2.9 +/- 10.9 mg/dL, P = 0.03) and LDL-cholesterol levels (- 4.5 +/- 10.3 vs. + 2.5 +/- 10.6 mg/dL, P = 0.04) compared with the placebo. CONCLUSION: Overall, the findings of this trial supported that 50,000 IU vitamin D supplementation every other week for 8 weeks had beneficial effects on insulin metabolism, and lipid profile of infertile women with PCOS who are candidate for IVF. These benefits might not be evident upon having sufficient vitamin D levels. TRIAL REGISTRATION: This study was retrospectively registered in the Iranian website ( www.irct.ir ) for clinical trials registration ( http://www.irct.ir : IRCT20170513033941N27). |
|
|
|
|
| © 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
|