Identity
HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
CRB1-A,CRB1-B,CRB1-C,LCA8,RP12
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23418
MIM: 604210
HGNC: 2343
Ensembl: ENSG00000134376
Variants:
dbSNP: 23418
ClinVar: 23418
TCGA: ENSG00000134376
COSMIC: CRB1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Hippo signaling pathway | KEGG | hsa04390 |
| Hippo signaling pathway | KEGG | ko04390 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37749859 | 2024 | Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study. | 1 |
| 38570189 | 2024 | Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. | 1 |
| 38622537 | 2024 | Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. | 0 |
| 37749859 | 2024 | Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study. | 1 |
| 38570189 | 2024 | Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. | 1 |
| 38622537 | 2024 | Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. | 0 |
| 36099972 | 2023 | CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. | 14 |
| 37541258 | 2023 | CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids. | 3 |
| 37762234 | 2023 | Foveal Hypoplasia in CRB1-Related Retinopathies. | 0 |
| 37804373 | 2023 | A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. | 0 |
| 36099972 | 2023 | CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. | 14 |
| 37541258 | 2023 | CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids. | 3 |
| 37762234 | 2023 | Foveal Hypoplasia in CRB1-Related Retinopathies. | 0 |
| 37804373 | 2023 | A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. | 0 |
| 33579689 | 2022 | CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up. | 14 |
Citation
Dessen P
CRB1 (crumbs cell polarity complex component 1)
Atlas Genet Cytogenet Oncol Haematol. 2009-10-01
Online version: http://atlasgeneticsoncology.org/gene/51146/crb1-(crumbs-cell-polarity-complex-component-1)
