| Entrez Gene ID | 23418 |
|---|---|
| Official Gene Symbol | CRB1 (GeneCards) |
| Full name | crumbs 1, cell polarity complex component |
| Location | 1q31.3 |
| Other ids | Vega : OTTHUMG00000035663 MIM : 604210 HGNC : HGNC:2343 Ensembl : ENSG00000134376 |
| Other names | LCA8, RP12 |
| Summary | This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 2021 | 23418 | CRB1 | 1 | 197302715 | 197302715 | Asymptomatic | HiSeq X Ten |
| 2610 | 23418 | CRB1 | 1 | 197247284 | 197247284 | Asymptomatic | HiSeq X Ten |
| 2798 | 23418 | CRB1 | 1 | 197331809 | 197331809 | Xeroderma Pigmentosum | HiSeq X Ten |
| 29453 | 23418 | CRB1 | 1 | 197297759 | 197297759 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |