Aliases for RPGR Gene
External Ids for RPGR Gene
Previous HGNC Symbols for RPGR Gene
Previous GeneCards Identifiers for RPGR Gene
This gene 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, Dec 2008]
GeneCards Summary for RPGR Gene
RPGR (Retinitis Pigmentosa GTPase Regulator) is a Protein Coding gene. Diseases associated with RPGR include Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness and Retinitis Pigmentosa 3. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is RCBTB2.
UniProtKB/Swiss-Prot Summary for RPGR Gene
Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia.