CRX (gene)
CRX (gene)
The CRX (gene) or cone-rod homeobox is a protein coding gene in humans. It is associated with the development and survival of photoreceptor cells in the retina, which are essential for vision.
Function[edit | edit source]
The CRX gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of certain genes. This protein is a transcription factor, which means it is involved in the process of converting, or transcribing, genetic information from DNA to the RNA molecule that carries the information to the cell's protein-making machinery.
The CRX protein is found in the retina, the light-sensitive tissue at the back of the eye. It is particularly important in cells called photoreceptors. There are two types of photoreceptors: rods, which provide vision in low light, and cones, which provide color vision and visual acuity.
Clinical significance[edit | edit source]
Mutations in the CRX gene can lead to several conditions related to vision. These include Leber congenital amaurosis, cone-rod dystrophy, and retinitis pigmentosa. These conditions are characterized by vision loss or blindness that worsens over time.
See also[edit | edit source]
- Homeobox
- Photoreceptor cell
- Retina
- Leber congenital amaurosis
- Cone-rod dystrophy
- Retinitis pigmentosa
References[edit | edit source]
External links[edit | edit source]
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