Gene: TOPORS

Alternate names for this Gene: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.1

Description of this Gene: TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

Type of Gene: protein-coding

rs869312183 in TOPORS gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs1554671407 in TOPORS gene and Retinitis Pigmentosa PMID 18509552 2008 Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 17924349 2007 Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.