CRX Infographic
Cone-rod homeobox protein Info At a glance, species: Human
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Cone-rod homeobox protein (CRX)
Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of many 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. .
Gene Information
| Human | |
|---|---|
| Gene Name: | CRX |
| Uniprot: | O43186 |
| Entrez: | 1406 |
Family
| Belongs to: |
|---|
| paired homeobox family |
Alternative Names
cone-rod homeobox; CORD2; CRDcone-rod homeobox protein; CRX; LCA7; LCA7orthodenticle homeobox 3; OTX3
Molecular Weight
Mass (kDA):
32.261 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 19q13.33 |
| Sequence: | 19; NC_000019.10 (47821937..47843324) |
Tissue Specificity
Retina.
Subcellular Localizations
Nucleus.
Diseases
- Retinal Degeneration
- Retinitis Pigmentosa
- Blind Vision
- Leber Congenital Amaurosis
- Amaurosis
- Dystrophy
- Retinal Diseases
- Retinal Dystrophies
- Retinoblastoma
- Abnormal Degeneration
- Visual Impairment
Interacting Proteins
- ABI2
- AES
- ATG12
- C1orf109
- C9orf72
- CA8
- CCNC
- DELE1
- EIF5A
- GCM2
Pathways
- Phototransduction
- Localization
- Eye Development
- Cell Differentiation
- Pathogenesis
- Cell Cycle
- Regeneration
- Cell Fate Determination
- Cell Death
- Photoreceptor Cell Fate Determination
- Neurogenesis
- Photoreceptor Cell Differentiation
- Cell Development
PTMs
- Phosphorylation
- Acetylation
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/CRX
bosterbio.com/bosterbio-gene-info-cards/CRX
References
PMID: 9390563 by Freund C.L., et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
PMID: 17286855 by Roni V., et al. Mapping of transcription start sites of human retina expressed genes.
