Symbol: Name: ID: |
RPGR retinitis pigmentosa GTPase regulator GFS:250 |
Gene name: | RPGR |
Chromosome: | Xp21.1 |
Previous Symbols: | CRD, RP3, RP15, COD1 |
Previous Names: | retinitis pigmentosa 15, "cone dystrophy 1 (X-linked)" |
Aliases: | CORDX1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1344037 | Rat Genome Database ID: | |
HGNC ID: | HGNC:10295 | RefSeq IDs: | NM_000328 |
Entrez Gene ID: | 6103 | Ensembl Gene ID: | ENSG00000156313 |
VEGA IDs: | OTTHUMG00000021361 | UniProt ID: | Q92834 |
UCSC ID: | uc004ded.1 | OMIM ID: | 312610 |
Pubmed: | PMID8673101 PMID 8817343 | ||
CCDS IDs: | CCDSCCDS14246.1 CCDS CCDS35229.1 |
Retinitis pigmentosa GTPase regulator encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq].
Products for RPGR gene
Catalog | Product Name | Application | Company |
GFS:E00250 | retinitis pigmentosa GTPase regulator; ELISA kit | ELISA | n/a |
GFS:A00250 | retinitis pigmentosa GTPase regulator; Anti | ANTIBODIES | n/a |
GFS:P00250 | retinitis pigmentosa GTPase regulator; Protien | Protien | n/a |