Entrez gene ID | | 10210 |
Official gene symbol | | TOPORS |
Full name | | topoisomerase I binding, arginine/serine-rich |
Aliases | | ,LUN,P53BP3,RP31,TP53BPL, |
Gene 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] |
Location | | Chromosome: 9 Locus: 9p21 |
Gene position | | 32552622 - 32540542 Map Viewer |
Gene orientation | | minus |
Gene size | | 12081 bp |
Gene sequence |
| |
OMIM ID | | 609507 |
|