Rabbit anti-Human RPGR Polyclonal Antibody

Uniprot Id

Q92834

Target Species

Human

Target Name

RPGR

Target Full Name

X-linked retinitis pigmentosa GTPase regulator

Target Function

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. May be involved in microtubule organization and regulation of transport in primary cilia.

Target Involvement

Retinitis pigmentosa 3 (RP3); Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI); Cone-rod dystrophy, X-linked 1 (CORDX1); Macular degeneration, X-linked, atrophic (MDXLA)

Target Subcellular Location

Cytoplasm, cytoskeleton, flagellum axoneme. Golgi apparatus. Cell projection, cilium.; [Isoform 6]: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.

Target Tissue Specificity

Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments.

Target Research Area

Guanine-nucleotide releasing factor

Target Synonyms

RPGR; RP3; XLRP3; X-linked retinitis pigmentosa GTPase regulator

Target Background

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.