| Gene Symbol | TOPORS |
| Entrez Gene ID | 10210 |
| Full Name | TOP1 binding arginine/serine rich protein |
| Synonyms | LUN,P53BP3,RP31,TP53BPL |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Retinitis pigmentosa 31, 609923 (3) |
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