Recombinant Human Cone-rod homeobox protein (CRX)

Uniprot Id

O43186

Target Species

Human

Target Name

CRX

Target Full Name

Cone-rod homeobox protein

Target 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.

Target Involvement

Leber congenital amaurosis 7 (LCA7); Cone-rod dystrophy 2 (CORD2); Retinitis pigmentosa (RP)

Target Subcellular Location

Nucleus.

Target Protein Families

Paired homeobox family

Target Tissue Specificity

Retina.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

Cone rod homeobox; Cone rod homeobox protein; Cone rod homeobox-containing gene; cone-rod homeobox; Cone-rod homeobox protein; CORD 2; CRD; CRX; CRX_HUMAN; LCA 7; LCA7; Orthodenticle homeobox 3; OTX 3; OTX3

Target Background

The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.