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RPGR retinitis pigmentosa GTPase regulator [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000328 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001034853 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol RPGR
Entrez Gene ID 6103
Full Name retinitis pigmentosa GTPase regulator
Synonyms COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp21.1

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].
Disorder

MIM: 312610

Retinitis pigmentosa-3, 300029 (3); Cone-rod dystrophy-1, 304020 (3);

mRNA Protein Product Sequence Price Select
NM_000328, 66932995 NP_000319, 4506581 X-linked retinitis pigmentosa GTPase regulator isoform A ORF Sequence $750.00
NM_001034853, 78190491 NP_001030025, 78190492 X-linked retinitis pigmentosa GTPase regulator isoform C ORF Sequence $1500.00
Homo sapiens (human)RPGRNP_001030025.1
Macaca mulatta (Rhesus monkey)LOC714316XP_001103994.2
Canis lupus familiaris (dog)RPGRNP_001003126.1
Mus musculus (house mouse)RpgrNP_001171421.1
Rattus norvegicus (Norway rat)RpgrNP_001121073.1
Gallus gallus (chicken)RPGRXP_416780.3
Danio rerio (zebrafish)rpgrbXP_685964.5
GeneCards RPGR
UniProt Q92834
MIM 312610
Ensembl ENSG00000156313
HGNC 10295
HPRD 02425

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
X-linked retinitis pigmentosa GTPase regulator
Names
X-linked retinitis pigmentosa GTPase regulator
retinitis pigmentosa 15
retinitis pigmentosa 3 GTPase regulator

Interactant



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