RPGR retinitis pigmentosa GTPase regulator

Gene ID: 6103, updated on 17-Jun-2024
Gene type: protein coding
Also known as: CRD; RP3; COD1; PCDX; RP15; XLRP3; orf15; CORDX1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Macular degeneration, X-linked atrophic MedGen: C3151784OMIM: 300834GeneReviews: Not available	See labs
Retinitis pigmentosa 3 MedGen: C1845667OMIM: 300029GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	See labs
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness MedGen: C2749137OMIM: 300455GeneReviews: Not available	See labs
X-linked cone-rod dystrophy 1 MedGen: C1844776OMIM: 304020GeneReviews: Not available	See labs

Genomic context

Location:: Xp11.4

Sequence:: Chromosome: X; NC_000023.11 (38269163..38327509, complement)

Total number of exons:: 25

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for RPGR variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
RPGR @ LOVD
RPGR @ The Human Genetics Unit Edinburgh U.K.
Variation Viewer
Related Variants

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