Recombinant Human Solute carrier family 2, facilitated glucose transporter member 10 (SLC2A10), partial

1. We document a spectrum of ophthalmic manifestations of arterial tortuosity syndrome with universal findings of myopia, corneal thinning, and a propensity for corneal ectasia leading to keratoconus or keratoglobus. Heterozygous carriers may develop keratectasia after corneal refractive surgery PMID: 28726533
2. GLUT10 is a dehydroascorbic acid (DAA) transporter and DAA transport is diminished in the endomembranes of fibroblasts from Arterial Tortuosity syndrome patients. PMID: 27153185
3. GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts PMID: 26376865
4. 100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene. Study expanded the allelic repertoire of SLC2A10 by identifying two novel mutations. PMID: 25373504
5. Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) PMID: 25078964
6. Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations. PMID: 22001912
7. Our data demonstrate that genetic polymorphism of the SLC2A10 gene is an independent risk factor for PAD in type 2 diabetes. PMID: 20735855
8. expression in adipose tissue PMID: 12890477
9. variation in the coding region of SLC2A10 does not contribute substantially to the pathogenesis of type 2 diabetes PMID: 12941788
10. The SLC2A10 gene encodes a glucose transporter and is located on chromosome 20q13, where evidence has been found for linkage to type 2 diabetes (T2D) in multiple studies. PMID: 15936967
11. Complex regulatory mechanism of SLC2A10 expression through interaction of multiple transcription factors on basal promotor and prescence of distal repressor sequence suggests fine modulation of GLUT10 levels critical for glucose homeostasis. PMID: 16051383
12. GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity PMID: 16550171
13. SLC2A10 genetic variations do not appear to be major determinants for type 2 diabetes susceptibility in the Taiwanese population. PMID: 16586067
14. the c.243C>G mutation in the Middle Eastern families may have a common origin and shared ances PMID: 18565096
15. analysis of a missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome PMID: 18774132
16. Patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry a novel non-sense mutationin in the SLC2A10 gene. PMID: 18818946

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HGNC: 13444

OMIM: 208050

KEGG: hsa:81031

STRING: 9606.ENSP00000352216

UniGene: Hs.305971