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TOPORS

Official Full Name
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
Organism
Homo sapiens
GeneID
10210
Background
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]
Synonyms
LUN; RP31; P53BP3; TP53BPL;

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