Entity Details

Primary name RP9
Entity type gene
Source Source Link

Details

PrimaryID6100
RefseqGeneNG_012968
SymbolRP9
NameRP9 pre-mRNA splicing factor
Chromosome7
Location7p14.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRP9_HUMAN

GO terms

Show/Hide Table
GOName
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0008380 RNA splicing
GO:0046872 metal ion binding
GO:0050890 cognition

Diseases

Show/Hide Table
Disease IDSourceNameDescription
180104 OMIMRetinitis pigmentosa 9 (RP9)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.