TOPORS Summary

This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

TOPORS Details

Gene Symbol : TOPORS

Gene Name : TOP1 binding arginine/serine rich protein

Chromosome : CHR 9: 325,526,27-325,405,43

Locus : 9p21.1

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ADAMTSL1 Summary

This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

ADAMTSL1 Details

Gene Symbol : ADAMTSL1

Gene Name : ADAMTS like 1

Chromosome : CHR 9: 179,065,73-189,109,49

Locus : 9p22.2-p22.1

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