CRX
cone-rod homeobox
- Ensembl:
- ENSG00000105392
- UniProt:
- O43186
- OMIM:
- 602225
- Synonyms:
- CORD2, CRD, LCA7, OTX3
Cilia effects upon perturbation of CRX
Ciliogenesis screen results (6 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585
- Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=4.74) PMID:20393562
Phenotypes
- Mouse phenotype:
- enlarged thymus, abnormal semil vesicle morphology, small thymus, abnormal thymus morphology, increased nk cell number, decreased exploration in new environment, increased fasting circulating glucose level, enlarged uriry bladder, abnormal skin morphology
- Mouse ciliopathy phenotype:
- abnormal reti morphology, small testis, enlarged heart, abnormal heart morphology, abnormal uriry bladder morphology, abnormal testis morphology
- Human ciliopathy phenotype:
- Leber congenital amaurosis; retinitis pigmentosa; cone-rod dystrophy 2; Leber congenital amaurosis 7; autosomal dominant retinitis pigmentosa; cone-rod dystrophy
Subcellular localization
cilia, nucleus
Functional category
- Ciliary assembly/disassembly
- Transcription regulation
Function
CRX has localized in cilia. The gene causes Leber congenital amaurosis (LCA) (37072495)