cone-rod homeobox
Senast uppdaterad 18 aug 2020
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Den CRX gene provides instructions for making a protein called the cone-rod homeobox protein. This protein is found in the eyes, specifically in the light-sensitive tissue at the back of the eye called the retina. The cone-rod homeobox protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. On the basis of this action, this protein is called a transcription factor.
Normal function
Den CRX gene provides instructions for making a protein called the cone-rod homeobox protein. This protein is found in the eyes, specifically in the light-sensitive tissue at the back of the eye called the retina. The cone-rod homeobox protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. On the basis of this action, this protein is called a transcription factor.
In the retina, the cone-rod homeobox protein is necessary for the normal development of light-detecting cells called photoreceptors. Through its actions as a transcription factor, the cone-rod homeobox protein helps photoreceptor cells mature into two types: rods and cones. Rods are needed for vision in low light, while cones are needed for vision in bright light, including colour vision. The protein also helps maintain these cells and preserve vision.
Conditions referring to this gene or chromosome
Other names
cone-rod homeobox protein
CORD2
CRD
LCA7
orthodenticle homeobox 3
OTX3
Related patient information and medicines
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Patient information leaflet
Visuella problem
Visual problems can arise from problems affecting different parts of the eye. The macula is ... This is the part of the retina that is the most densely packed with rods and cones, which are the cells that help with "seeing". Nerve signals pass from these "seeing" cells in the retina down nerve fibres in the optic nerve to the area of the brain.
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Näthinneavlossning
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Färgseendedefekt
... How do we see colour. Different colours are seen by special cells in the retina at the back of your eye. There are two types of cells, called rods and cones. Cones are concerned with colour vision. There are three types of cones: red cones, blue cones and green cones. Each type of cone senses a different range of light. Therefore the.
Patient information leaflet
Retinal artärocklusion
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Skolios och kyfos
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Vidare läsning och referenser
- cone-rod homeobox; MedlinePlus, National Library of Medicine.
- Huang L, Li S, Xiao X, Jia X, Wang P, Guo X, Zhang Q. Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep. 2013 Jun;7(6):1779-85. doi: 10.3892/mmr.2013.1415. Epub 2013 Apr 5.
- Huang L, Xiao X, Li S, Jia X, Wang P, Guo X, Zhang Q. CRX variants in cone-rod dystrophy and mutation overview. Biochem Biophys Res Commun. 2012 Oct 5;426(4):498-503. doi: 10.1016/j.bbrc.2012.08.110. Epub 2012 Aug 30.
- Huang L, Zhang Q, Li S, Guan L, Xiao X, Zhang J, Jia X, Sun W, Zhu Z, Gao Y, Yin Y, Wang P, Guo X, Wang J, Zhang Q. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone.0065546. Print 2013.
Artikelhistorik
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18 aug 2020 | Senaste versionen
1 Feb 2016 | Ursprungligen publicerad
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