SKIV2L Antibody

1. This meta-analysis showed that SKIV2L rs429608 was statistically associated with age-related macular degeneration(AMD) and it might exert a protective effect on AMD. Further investigations are needed to validate the association and confirm the role of SKIV2L in AMD. PMID: 27484132
2. The present study was the first, to the best of our knowledge, to report a case of a boy with THES resulting from compound heterozygous mutations of the SKIV2L gene in China. PMID: 27431780
3. Study reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations. PMID: 27050310
4. Data from 4 consanguineous families in Saudi Arabia suggest SKIV2L mutations in tricho-hepato-enteric syndrome can include deletions (c.3559_3579del, p.1187_1193del; 4 subjects) and nonsense mutation (c.C4102T, p.Q1368X; 1 subject). [CASE REPORT] PMID: 25714577
5. A SKIV2L variant was associated with protection against exudative age-related macular degeneration regardless of subtypes in the Japanese population. PMID: 24865191
6. Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L gene were found in a family with severe infantile liver disease. PMID: 23679950
7. SKIV2L is a likely causal gene for neovascular AMD, conferring a significant protective effect independent of CFH and HTRA1. PMID: 23260260
8. The results showed that mutations in genes encoding SKIV2L cause trichohepatoenteric syndrome, establishing a link between defects of the human exosome complex and a Mendelian disease. PMID: 22444670
9. A protective effect was observed at rs429608, an intronic SNP in SKIV2L. PMID: 20861866
10. Our results do not support any major role of the 4 AMD-associated variants in the risk of developing PCV, but favor a predominant association with the RDBP-SKIV2L variants PMID: 19556007
11. SKI2VL was found to be associated with the human exosome, a multiprotein complex involved in RNA degradation. PMID: 11719186

Show More

Hide All

HGNC: 10898

OMIM: 600478

KEGG: hsa:6499

STRING: 9606.ENSP00000364543

UniGene: Hs.89864