Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene. [5] [6] [7]
Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene. [5] [6] [7]
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber's congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [7]
Mammalian CRX encodes a 299 amino acid protein containing a DNA binding homeodomain (HD) near its N-terminus followed by glutamine rich (Gln), and basic amino acid regions, then a C-terminal transactivation domain (AD). [8] While structural biochemistry has demonstrated that the CRX HD adopts a canonical homeodomain protein fold, the AD is predicted to be flexible and disordered. The structural attributes of the CRX AD have yet to be solved. [9]
CRX is a divergent duplicate of OTX produced during the 2 rounds of vertebrate whole genome duplication. [10]
In the eutherian mammals, CRX has again duplicated by tandem gene duplication, with six ancestral duplicates, which are collectively referred to as ETCHbox genes. [11]
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life.
The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3, is a protein that in humans is encoded by the NR2E3 gene. PNR is a member of the nuclear receptor super family of intracellular transcription factors.
Homeobox protein MSX-2 is a protein that in humans is encoded by the MSX2 gene.
Retinal pigment epithelium-specific 65 kDa protein, also known as retinoid isomerohydrolase, is an enzyme of the vertebrate visual cycle that is encoded in humans by the RPE65 gene. RPE65 is expressed in the retinal pigment epithelium and is responsible for the conversion of all-trans-retinyl esters to 11-cis-retinol during phototransduction. 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells. RPE65 belongs to the carotenoid oxygenase family of enzymes.
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta is the beta subunit of the protein complex PDE6 that is encoded by the PDE6B gene. PDE6 is crucial in transmission and amplification of visual signal. The existence of this beta subunit is essential for normal PDE6 functioning. Mutations in this subunit are responsible for retinal degeneration such as retinitis pigmentosa or congenital stationary night blindness.
Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.
Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.
Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.
Homeobox protein OTX2 is a protein that in humans is encoded by the OTX2 gene.
Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
Retinol dehydrogenase 12 is an enzyme that in humans is encoded by the RDH12 gene.
Visual system homeobox 2 is a protein that in humans is encoded by the VSX2 gene.
Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.
Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.