Spata7

Summary

Gene Symbol: Spata7
Description: spermatogenesis associated 7
Alias: AI661438, B230306G18Rik, HSD3, spermatogenesis-associated protein 7 homolog
Species: mouse
Products:     Spata7

Top Publications

  1. Wang H, den Hollander A, Moayedi Y, Abulimiti A, Li Y, Collin R, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009;84:380-7 pubmed publisher
    ..By direct Sanger sequencing of all genes within this region, we found a homozygous nonsense mutation in the SPATA7 gene in Saudi Arabian family KKESH-060...
  2. Eblimit A, Nguyen T, Chen Y, Esteve Rudd J, Zhong H, Letteboer S, et al. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015;24:1584-601 pubmed publisher
    ..b>SPATA7 has recently been identified as the LCA3 and juvenile RP gene in humans, whose function in the retina remains ..