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.

Dec 24, 2024 · CRX (Cone-Rod Homeobox) is a Protein Coding gene. Diseases associated with CRX include Cone-Rod Dystrophy 2 and Leber Congenital Amaurosis 7. Among its related pathways are Bardet-Biedl syndrome and Ciliopathies.

The CRX gene provides instructions for making a protein called the cone-rod homeobox protein. This protein is found 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.

One of these genes is the cone-rod homeobox (CRX) gene (OMIM: 602225). The CRX gene encodes the 299-aminoacid cone-rod homeodomain protein, which is expressed in the photoreceptors, retinal pigment epithelium cells, and the pineal gland. 3, 4 This protein acts as a transcription factor, regulating the expression of photoreceptor genes and ...

Jul 1, 2022 · Cone-rod homeobox (CRX; OMIM∗602225) is a transcription factor highly expressed in rod and cone photoreceptors, which is essential for their development and survival. 1,2 Mutations in the CRX gene were first implicated in dominant cone-rod dystrophy (CRD) in a single, large family. 3 Subsequently, pathogenic CRX mutations were identified as the ...

The Cone-rod homeobox (CRX) protein is a key transcription factor essential for photoreceptor function and survival. Mutations in human CRX gene are linked to a wide spectrum of blinding diseases ranging from mild macular dystrophy to severe Leber Congenital Amaurosis (LCA), Cone-Rod Dystrophy (CRD) and Retinitis Pigmentosa (RP). These diseases ...

Mar 12, 2025 · 1. Introduction. The cone rod homeobox (CRX) gene was first identified and characterized in three independent laboratories as a transcription factor vital for the proper differentiation and survival of photoreceptors (Citation 1–3).CRX is a member of the orthodenticle (Otx) gene family which is essential for the development of …

The CRX gene provides instructions for making a protein called the cone-rod homeobox protein. This protein is found in the eyes, specifically in the light-sensitive tissue at the

Title: Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model. Downregulation of CRX, a Group 3-specific oncogenic transcription factor, inhibits TGF-beta/activin signaling in medulloblastoma cells.

One of the isolated cDNAs encoded a novel gene, which the authors termed CRX for 'cone-rod homeobox-containing gene.' CRX encodes a 299-amino acid protein with a predicted mass of 32 kD that is most similar to the human OTX1 (600036) and OTX2 (600037) homeodomain proteins.