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Gene Symbol |
SLC30A8 |
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Aliases |
ZNT8, ZnT-8 |
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Entrez Gene ID |
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Gene Name |
Solute carrier family 30 member 8 |
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Chromosomal Location |
8q24.11 |
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HGNC ID |
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Summary |
The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
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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 |
Zinc transporter 8, solute carrier family 30 (zinc transporter), member 8, zinc transporter ZnT-8 |
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Function |
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Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells. |
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UniProt |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF01545 |
Cation_efflux |
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Associated Diseases
| Disease group | Disease Name | References |
| Cardiovascular Diseases |
| Aortic Aneurysm |
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| Coronary heart disease |
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| Endocrine System Diseases |
| Diabetes Mellitus |
21461562, 24584071, 21779873, 19542200, 19479076, 20424817, 19734900, 28869590, 17463246, 19401414, 27189021, 17463248, 17463249, 17293876, 26818947, 23945395, 29358691, 23300278, 22325160, 22158537, 21647700, 218 |
| PCOS |
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| Psychiatric/Brain disorders |
| Schizophrenia |
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| Respiratory Tract Diseases |
| Asthma |
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References |
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| Ezzidi Intissar, Mtiraoui Nabil, Mohmmed Ali Mohammed Eltigani, Masoudi Aqeel Al, Abu Duhier Faisel |
| Prince Fahd Bin Sultan Research Chair, Using Advance Technology for Diseases Detection and Treatment, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia. iezzidi@ut.edu.sa. |
| J Genet. 2018 Dec;97(5):1213-1223. |
Abstract
Polycystic ovary syndrome (PCOS) is a common endocrine disorder in females, and is associated with altered metabolic processes in particular insulin resistance and diabetes mellitus. PCOS shares with type-2 diabetes (T2D) a number of features, including beta cell dysfunction, impaired glucose tolerance and dyslipidaemia. Recently, genomewide association studies (GWAS) have reported a number of genes with reproducible associations and susceptibilities to T2D. To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women. A case-control study, includes 162 cases and 162 controls was enrolled. Genotyping was carried out by the allelicdiscrimination method. Our results showed that the variants including rs792837 of COL8A1, rs61873498 of KCNQ1 and rs13266634 of SLC30A8 genes to be significantly more frequent in PCOS patients than in controls. Our results suggest that COL8A1, KCNQ1 and SLC30A8, which are previously identified through GWAS as T2D-associated genes, are associated with 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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