Gene Symbol | TOPORS |
Entrez Gene ID | 10210 |
Full Name | TOP1 binding arginine/serine rich protein |
Synonyms | LUN,P53BP3,RP31,TP53BPL |
General protein information |
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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) |