CRX : cone-rod homeobox

Description

The CRX (cone-rod homeobox) is a protein-coding gene located on chromosome 19.

The CRX gene provides instructions for making a protein called the cone-rod homeobox protein. This protein is located 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. This makes it a transcription factor. In the retina, the cone-rod homeobox protein is essential 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 necessary for vision in low light, while cones are needed for vision in bright light, including color vision. The protein also helps maintain these cells and preserve vision.

CRX is a transcription factor that binds to and activates the DNA sequence 5'-TAATC[CA]-3', which is located upstream of various genes specifically expressed in photoreceptor cells, including the opsin genes. It works together with other transcription factors like NRL, RORB, and RAX to control the expression of genes specific to photoreceptor cells. CRX is essential for maintaining the health of mammalian photoreceptor cells.

CRX is also known as CORD2, CRD, LCA7, OTX3.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing