CRX

Function

Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors.

Involvement in disease

Leber congenital amaurosis 7

LCA7

A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

None

The disease is caused by variants affecting the gene represented in this entry.

Cone-rod dystrophy 2

CORD2

An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

None

The disease is caused by variants affecting the gene represented in this entry.

Retinitis pigmentosa

RP

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the paired homeobox family.

Tissue specificity

Retina.

Cellular localization

• Nucleus

Alternative names

• Cone-rod homeobox protein
• CORD2
• CRX

Database links

• entrezGene:1406
• omim:602225
• swissprot:O43186

Target type

Proteins

Molecular weight

32261Da