The RPGR gene provides instructions for making a protein that is essential for normal vision. Although the protein’s function is not well understood, studies suggest that it plays an important role in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input, including hearing, smell, and vision.
Several different versions (isoforms) of the RPGR protein are produced from the RPGR gene. One version contains a segment known as the ORF15 exon. This version of the RPGR protein is active (expressed) predominantly in the retina, which is the light-sensitive tissue at the back of the eye. Specifically, the ORF15-containing isoform is found in the retina’s specialized light receptor cells (photoreceptors). Researchers suspect that this isoform may help maintain photoreceptors by regulating the function of cilia. Other isoforms of the RPGR protein are expressed in other parts of the body, where they are probably also involved in cilia function.
Other Names
COD1; CORDX1; CRD; PCDX; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; RP15; RP3; RPGR_HUMAN; X-linked retinitis pigmentosa GTPase regulator; XLRP3
Related Genetics Topics
- Primary ciliary dyskinesia — MedlinePlus Genetics
- Retinitis pigmentosa — MedlinePlus Genetics
- Cone-rod dystrophy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6103
- OMIM: 300455
- OMIM: 304020
- OMIM: 312610
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
