cone-rod homeobox
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L 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
L 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
Altri nomi
cone-rod homeobox protein
CORD2
CRD
LCA7
orthodenticle homeobox 3
OTX3
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Ulteriori letture e riferimenti
- 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.
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