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

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

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

• Homeobox
• Photoreceptor cell
• Retina
• Leber congenital amaurosis
• Cone-rod dystrophy
• Retinitis pigmentosa

External links

• NCBI Gene
• Genetics Home Reference

   This article is a medical stub. You can help WikiMD by expanding it!